3682 (A > T)

General info

Chr
chrM
Start
3682
End
3682
Ref
A
Alt
T
Mitimpact ID
MI.11534
Gene symbol
MT-ND1
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
376
AA pos
126
AA ref
N
AA alt
Y
Codon substitution
Aac/Tac
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
8.58539 Conservation Score
PhastCons 100v
1 Conservation Score

Pathogenicity predictors

PolyPhen2
Probably damaging Score and details of the predictor
SIFT
Neutral Score and details of the predictor
SIFT4G
Damaging Score and details of the predictor
FatHmm
Deleterious Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Neutral Score and details of the predictor
Mutation Assessor
Medium impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Disease Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Disease Score and details of the predictor
MitoClass 1
Neutral Score and details of the predictor
SNPDryad
Pathogenic Score and details of the predictor

Pathogenicity meta-predictors

APOGEE1
Neutral Score and details of the meta-predictor
APOGEE2
Vus Score and details of the meta-predictor
CAROL
Neutral Score and details of the meta-predictor
Condel
Deleterious Score and details of the meta-predictor
COVEC WMV
Deleterious Score and details of the meta-predictor
Meta SNP
Disease Score and details of the meta-predictor
MtoolBox
Deleterious Score and details of the meta-predictor
DEOGEN2
Neutral Score and details of the meta-predictor

Cancer-specific predictors

PolyPhen2 transf
Low impact Score and details of the cancer-specific predictor
SIFT transf
High impact Score and details of the cancer-specific predictor
MutationAssessor transf
Medium impact Score and details of the cancer-specific predictor
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Phenotypes

ClinVar July2022 CLNSIG
.
ClinVar July2022 CLNDN
.
ClinVar July2022 Variation ID
ClinVar July2022 CLNDISDB
.
MITOMAP Allele
.
MITOMAP Disease Het/Hom
.
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease GenBank Freq
.
MITOMAP Disease GenBank Seqs
.
MITOMAP Disease GenBank Curated refs
.
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
Gnomad31 filter
.
Gnomad31 AC hom
.
Gnomad31 AC het
.
Gnomad31 AF hom
.
Gnomad31 AF het
.
Gnomad31 AN
.
HelixMTdb AC hom
.
HelixMTdb AF hom
.
HelixMTdb AC het
.
HelixMTdb AF het
.
HelixMTdb mean ARF
.
HelixMTdb max ARF
.
COSMIC 90
.
dbSNP 155

Residue interaction

EVmutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Compensated Pathogenic Deviations

Frequency
.
AA ref
.
CPD AA alt
.
Aln pos
.
RefSeq protein ID
.
Species name
.
Ncbi taxon ID
.

3682 (A > C)

General info

Chr
chrM
Start
3682
End
3682
Ref
A
Alt
C
Mitimpact ID
MI.11535
Gene symbol
MT-ND1
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
376
AA pos
126
AA ref
N
AA alt
H
Codon substitution
Aac/Cac
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
8.58539 Conservation Score
PhastCons 100v
1 Conservation Score

Pathogenicity predictors

PolyPhen2
Probably damaging Score and details of the predictor
SIFT
Neutral Score and details of the predictor
SIFT4G
Damaging Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Neutral Score and details of the predictor
Mutation Assessor
Medium impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Neutral Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Disease Score and details of the predictor
MitoClass 1
Neutral Score and details of the predictor
SNPDryad
Neutral Score and details of the predictor

Pathogenicity meta-predictors

APOGEE1
Neutral Score and details of the meta-predictor
APOGEE2
Vus Score and details of the meta-predictor
CAROL
Neutral Score and details of the meta-predictor
Condel
Neutral Score and details of the meta-predictor
COVEC WMV
Deleterious Score and details of the meta-predictor
Meta SNP
Disease Score and details of the meta-predictor
MtoolBox
Deleterious Score and details of the meta-predictor
DEOGEN2
Neutral Score and details of the meta-predictor

Cancer-specific predictors

PolyPhen2 transf
Low impact Score and details of the cancer-specific predictor
SIFT transf
Medium impact Score and details of the cancer-specific predictor
MutationAssessor transf
Medium impact Score and details of the cancer-specific predictor
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Phenotypes

ClinVar July2022 CLNSIG
.
ClinVar July2022 CLNDN
.
ClinVar July2022 Variation ID
ClinVar July2022 CLNDISDB
.
MITOMAP Allele
.
MITOMAP Disease Het/Hom
.
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease GenBank Freq
.
MITOMAP Disease GenBank Seqs
.
MITOMAP Disease GenBank Curated refs
.
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
Gnomad31 filter
.
Gnomad31 AC hom
.
Gnomad31 AC het
.
Gnomad31 AF hom
.
Gnomad31 AF het
.
Gnomad31 AN
.
HelixMTdb AC hom
.
HelixMTdb AF hom
.
HelixMTdb AC het
.
HelixMTdb AF het
.
HelixMTdb mean ARF
.
HelixMTdb max ARF
.
COSMIC 90
.
dbSNP 155

Residue interaction

EVmutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Compensated Pathogenic Deviations

Frequency
.
AA ref
.
CPD AA alt
.
Aln pos
.
RefSeq protein ID
.
Species name
.
Ncbi taxon ID
.

3682 (A > G)

General info

Chr
chrM
Start
3682
End
3682
Ref
A
Alt
G
Mitimpact ID
MI.11533
Gene symbol
MT-ND1
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
376
AA pos
126
AA ref
N
AA alt
D
Codon substitution
Aac/Gac
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
8.58539 Conservation Score
PhastCons 100v
1 Conservation Score

Pathogenicity predictors

PolyPhen2
Possibly damaging Score and details of the predictor
SIFT
Neutral Score and details of the predictor
SIFT4G
Damaging Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Neutral Score and details of the predictor
Mutation Assessor
Medium impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Damaging Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Disease Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Disease Score and details of the predictor
MitoClass 1
Neutral Score and details of the predictor
SNPDryad
Neutral Score and details of the predictor

Pathogenicity meta-predictors

APOGEE1
Neutral Score and details of the meta-predictor
APOGEE2
Vus Score and details of the meta-predictor
CAROL
Neutral Score and details of the meta-predictor
Condel
Neutral Score and details of the meta-predictor
COVEC WMV
.
Meta SNP
Disease Score and details of the meta-predictor
MtoolBox
Deleterious Score and details of the meta-predictor
DEOGEN2
Neutral Score and details of the meta-predictor

Cancer-specific predictors

PolyPhen2 transf
Low impact Score and details of the cancer-specific predictor
SIFT transf
Medium impact Score and details of the cancer-specific predictor
MutationAssessor transf
Medium impact Score and details of the cancer-specific predictor
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Phenotypes

ClinVar July2022 CLNSIG
.
ClinVar July2022 CLNDN
.
ClinVar July2022 Variation ID
ClinVar July2022 CLNDISDB
.
MITOMAP Allele
.
MITOMAP Disease Het/Hom
.
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease GenBank Freq
.
MITOMAP Disease GenBank Seqs
.
MITOMAP Disease GenBank Curated refs
.
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
Gnomad31 filter
.
Gnomad31 AC hom
.
Gnomad31 AC het
.
Gnomad31 AF hom
.
Gnomad31 AF het
.
Gnomad31 AN
.
HelixMTdb AC hom
.
HelixMTdb AF hom
.
HelixMTdb AC het
.
HelixMTdb AF het
.
HelixMTdb mean ARF
.
HelixMTdb max ARF
.
COSMIC 90
.
dbSNP 155

Residue interaction

EVmutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Compensated Pathogenic Deviations

Frequency
.
AA ref
.
CPD AA alt
.
Aln pos
.
RefSeq protein ID
.
Species name
.
Ncbi taxon ID
.

3683 (A > C)

General info

Chr
chrM
Start
3683
End
3683
Ref
A
Alt
C
Mitimpact ID
MI.11538
Gene symbol
MT-ND1
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
377
AA pos
126
AA ref
N
AA alt
T
Codon substitution
aAc/aCc
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
6.72618 Conservation Score
PhastCons 100v
1 Conservation Score

Pathogenicity predictors

PolyPhen2
Possibly damaging Score and details of the predictor
SIFT
Neutral Score and details of the predictor
SIFT4G
Damaging Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Neutral Score and details of the predictor
Mutation Assessor
Medium impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Neutral Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Disease Score and details of the predictor
MitoClass 1
Neutral Score and details of the predictor
SNPDryad
Neutral Score and details of the predictor

Pathogenicity meta-predictors

APOGEE1
Pathogenic Score and details of the meta-predictor
APOGEE2
Vus Score and details of the meta-predictor
CAROL
Neutral Score and details of the meta-predictor
Condel
Neutral Score and details of the meta-predictor
COVEC WMV
.
Meta SNP
Disease Score and details of the meta-predictor
MtoolBox
Deleterious Score and details of the meta-predictor
DEOGEN2
Neutral Score and details of the meta-predictor

Cancer-specific predictors

PolyPhen2 transf
Low impact Score and details of the cancer-specific predictor
SIFT transf
Medium impact Score and details of the cancer-specific predictor
MutationAssessor transf
Medium impact Score and details of the cancer-specific predictor
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Phenotypes

ClinVar July2022 CLNSIG
.
ClinVar July2022 CLNDN
.
ClinVar July2022 Variation ID
ClinVar July2022 CLNDISDB
.
MITOMAP Allele
.
MITOMAP Disease Het/Hom
.
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease GenBank Freq
.
MITOMAP Disease GenBank Seqs
.
MITOMAP Disease GenBank Curated refs
.
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
Gnomad31 filter
.
Gnomad31 AC hom
.
Gnomad31 AC het
.
Gnomad31 AF hom
.
Gnomad31 AF het
.
Gnomad31 AN
.
HelixMTdb AC hom
.
HelixMTdb AF hom
.
HelixMTdb AC het
.
HelixMTdb AF het
.
HelixMTdb mean ARF
.
HelixMTdb max ARF
.
COSMIC 90
.
dbSNP 155

Residue interaction

EVmutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Compensated Pathogenic Deviations

Frequency
.
AA ref
.
CPD AA alt
.
Aln pos
.
RefSeq protein ID
.
Species name
.
Ncbi taxon ID
.

3683 (A > G)

General info

Chr
chrM
Start
3683
End
3683
Ref
A
Alt
G
Mitimpact ID
MI.11537
Gene symbol
MT-ND1
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
377
AA pos
126
AA ref
N
AA alt
S
Codon substitution
aAc/aGc
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
6.72618 Conservation Score
PhastCons 100v
1 Conservation Score

Pathogenicity predictors

PolyPhen2
Possibly damaging Score and details of the predictor
SIFT
Neutral Score and details of the predictor
SIFT4G
Damaging Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Neutral Score and details of the predictor
Mutation Assessor
Low impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Neutral Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Neutral Score and details of the predictor
MitoClass 1
Neutral Score and details of the predictor
SNPDryad
Neutral Score and details of the predictor

Pathogenicity meta-predictors

APOGEE1
Pathogenic Score and details of the meta-predictor
APOGEE2
Likely-benign Score and details of the meta-predictor
CAROL
Neutral Score and details of the meta-predictor
Condel
Deleterious Score and details of the meta-predictor
COVEC WMV
Neutral Score and details of the meta-predictor
Meta SNP
Neutral Score and details of the meta-predictor
MtoolBox
Deleterious Score and details of the meta-predictor
DEOGEN2
Neutral Score and details of the meta-predictor

Cancer-specific predictors

PolyPhen2 transf
Medium impact Score and details of the cancer-specific predictor
SIFT transf
Medium impact Score and details of the cancer-specific predictor
MutationAssessor transf
Medium impact Score and details of the cancer-specific predictor
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Phenotypes

ClinVar July2022 CLNSIG
.
ClinVar July2022 CLNDN
.
ClinVar July2022 Variation ID
ClinVar July2022 CLNDISDB
.
MITOMAP Allele
.
MITOMAP Disease Het/Hom
.
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease GenBank Freq
.
MITOMAP Disease GenBank Seqs
.
MITOMAP Disease GenBank Curated refs
.
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
Gnomad31 filter
Pass
Gnomad31 AC hom
0
Gnomad31 AC het
2
Gnomad31 AF hom
0
Gnomad31 AF het
0.00003543963
Gnomad31 AN
56434
HelixMTdb AC hom
.
HelixMTdb AF hom
.
HelixMTdb AC het
.
HelixMTdb AF het
.
HelixMTdb mean ARF
.
HelixMTdb max ARF
.
COSMIC 90
.
dbSNP 155

Residue interaction

EVmutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Compensated Pathogenic Deviations

Frequency
.
AA ref
.
CPD AA alt
.
Aln pos
.
RefSeq protein ID
.
Species name
.
Ncbi taxon ID
.

3683 (A > T)

General info

Chr
chrM
Start
3683
End
3683
Ref
A
Alt
T
Mitimpact ID
MI.11536
Gene symbol
MT-ND1
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
377
AA pos
126
AA ref
N
AA alt
I
Codon substitution
aAc/aTc
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
6.72618 Conservation Score
PhastCons 100v
1 Conservation Score

Pathogenicity predictors

PolyPhen2
Probably damaging Score and details of the predictor
SIFT
Neutral Score and details of the predictor
SIFT4G
Damaging Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Deleterious Score and details of the predictor
Mutation Assessor
Low impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Disease Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Disease Score and details of the predictor
MitoClass 1
Neutral Score and details of the predictor
SNPDryad
Pathogenic Score and details of the predictor

Pathogenicity meta-predictors

APOGEE1
Neutral Score and details of the meta-predictor
APOGEE2
Vus Score and details of the meta-predictor
CAROL
Neutral Score and details of the meta-predictor
Condel
Neutral Score and details of the meta-predictor
COVEC WMV
Neutral Score and details of the meta-predictor
Meta SNP
Disease Score and details of the meta-predictor
MtoolBox
Deleterious Score and details of the meta-predictor
DEOGEN2
Neutral Score and details of the meta-predictor

Cancer-specific predictors

PolyPhen2 transf
Low impact Score and details of the cancer-specific predictor
SIFT transf
Medium impact Score and details of the cancer-specific predictor
MutationAssessor transf
Medium impact Score and details of the cancer-specific predictor
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Phenotypes

ClinVar July2022 CLNSIG
.
ClinVar July2022 CLNDN
.
ClinVar July2022 Variation ID
ClinVar July2022 CLNDISDB
.
MITOMAP Allele
.
MITOMAP Disease Het/Hom
.
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease GenBank Freq
.
MITOMAP Disease GenBank Seqs
.
MITOMAP Disease GenBank Curated refs
.
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
Gnomad31 filter
.
Gnomad31 AC hom
.
Gnomad31 AC het
.
Gnomad31 AF hom
.
Gnomad31 AF het
.
Gnomad31 AN
.
HelixMTdb AC hom
.
HelixMTdb AF hom
.
HelixMTdb AC het
.
HelixMTdb AF het
.
HelixMTdb mean ARF
.
HelixMTdb max ARF
.
COSMIC 90
.
dbSNP 155

Residue interaction

EVmutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Compensated Pathogenic Deviations

Frequency
.
AA ref
.
CPD AA alt
.
Aln pos
.
RefSeq protein ID
.
Species name
.
Ncbi taxon ID
.

General info

Chr
chrM
Start
3684
End
3684
Ref
C
Alt
G
Mitimpact ID
MI.11539
Gene symbol
MT-ND1
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
378
AA pos
126
AA ref
N
AA alt
K
Codon substitution
aaC/aaG
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
1.14854 Conservation Score
PhastCons 100v
1 Conservation Score

Pathogenicity predictors

PolyPhen2
Benign Score and details of the predictor
SIFT
Neutral Score and details of the predictor
SIFT4G
Tolerated Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Neutral Score and details of the predictor
Mutation Assessor
Neutral impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Neutral Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Neutral Score and details of the predictor
SNAP
Neutral Score and details of the predictor
MitoClass 1
Neutral Score and details of the predictor
SNPDryad
Neutral Score and details of the predictor

Pathogenicity meta-predictors

APOGEE1
Pathogenic Score and details of the meta-predictor
APOGEE2
Benign Score and details of the meta-predictor
CAROL
Neutral Score and details of the meta-predictor
Condel
Deleterious Score and details of the meta-predictor
COVEC WMV
Neutral Score and details of the meta-predictor
Meta SNP
Neutral Score and details of the meta-predictor
MtoolBox
Neutral Score and details of the meta-predictor
DEOGEN2
Neutral Score and details of the meta-predictor

Cancer-specific predictors

PolyPhen2 transf
Medium impact Score and details of the cancer-specific predictor
SIFT transf
Medium impact Score and details of the cancer-specific predictor
MutationAssessor transf
Low impact Score and details of the cancer-specific predictor
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Phenotypes

ClinVar July2022 CLNSIG
.
ClinVar July2022 CLNDN
.
ClinVar July2022 Variation ID
ClinVar July2022 CLNDISDB
.
MITOMAP Allele
.
MITOMAP Disease Het/Hom
.
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease GenBank Freq
.
MITOMAP Disease GenBank Seqs
.
MITOMAP Disease GenBank Curated refs
.
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
Gnomad31 filter
.
Gnomad31 AC hom
.
Gnomad31 AC het
.
Gnomad31 AF hom
.
Gnomad31 AF het
.
Gnomad31 AN
.
HelixMTdb AC hom
.
HelixMTdb AF hom
.
HelixMTdb AC het
.
HelixMTdb AF het
.
HelixMTdb mean ARF
.
HelixMTdb max ARF
.
COSMIC 90
.
dbSNP 155

Residue interaction

EVmutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Compensated Pathogenic Deviations

Frequency
.
AA ref
.
CPD AA alt
.
Aln pos
.
RefSeq protein ID
.
Species name
.
Ncbi taxon ID
.

General info

Chr
chrM
Start
3684
End
3684
Ref
C
Alt
A
Mitimpact ID
MI.11540
Gene symbol
MT-ND1
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
378
AA pos
126
AA ref
N
AA alt
K
Codon substitution
aaC/aaA
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Conservation

PhyloP 100v
1.14854 Conservation Score
PhastCons 100v
1 Conservation Score

Pathogenicity predictors

PolyPhen2
Benign Score and details of the predictor
SIFT
Neutral Score and details of the predictor
SIFT4G
Tolerated Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Neutral Score and details of the predictor
Mutation Assessor
Neutral impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Neutral Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Neutral Score and details of the predictor
SNAP
Neutral Score and details of the predictor
MitoClass 1
Neutral Score and details of the predictor
SNPDryad
Neutral Score and details of the predictor

Pathogenicity meta-predictors

APOGEE1
Pathogenic Score and details of the meta-predictor
APOGEE2
Benign Score and details of the meta-predictor
CAROL
Neutral Score and details of the meta-predictor
Condel
Deleterious Score and details of the meta-predictor
COVEC WMV
Neutral Score and details of the meta-predictor
Meta SNP
Neutral Score and details of the meta-predictor
MtoolBox
Neutral Score and details of the meta-predictor
DEOGEN2
Neutral Score and details of the meta-predictor

Cancer-specific predictors

PolyPhen2 transf
Medium impact Score and details of the cancer-specific predictor
SIFT transf
Medium impact Score and details of the cancer-specific predictor
MutationAssessor transf
Low impact Score and details of the cancer-specific predictor
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Phenotypes

ClinVar July2022 CLNSIG
.
ClinVar July2022 CLNDN
.
ClinVar July2022 Variation ID
ClinVar July2022 CLNDISDB
.
MITOMAP Allele
.
MITOMAP Disease Het/Hom
.
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease GenBank Freq
.
MITOMAP Disease GenBank Seqs
.
MITOMAP Disease GenBank Curated refs
.
MITOMAP General GenBank Freq
0.00002
MITOMAP General GenBank Seqs
1
MITOMAP General GenBank Curated refs
1
Gnomad31 filter
Pass
Gnomad31 AC hom
3
Gnomad31 AC het
0
Gnomad31 AF hom
0.00005315944
Gnomad31 AF het
0
Gnomad31 AN
56434
HelixMTdb AC hom
.
HelixMTdb AF hom
.
HelixMTdb AC het
.
HelixMTdb AF het
.
HelixMTdb mean ARF
.
HelixMTdb max ARF
.
COSMIC 90
.
dbSNP 155

Residue interaction

EVmutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Compensated Pathogenic Deviations

Frequency
.
AA ref
.
CPD AA alt
.
Aln pos
.
RefSeq protein ID
.
Species name
.
Ncbi taxon ID
.
~ 3682 (A/T) 3682 (A/C) 3682 (A/G) 3683 (A/C) 3683 (A/G) 3683 (A/T) 3684 (C/G) 3684 (C/A)
~ 3682 (Aac/Tac) 3682 (Aac/Cac) 3682 (Aac/Gac) 3683 (aAc/aCc) 3683 (aAc/aGc) 3683 (aAc/aTc) 3684 (aaC/aaG) 3684 (aaC/aaA)
Chr chrM chrM chrM chrM chrM chrM chrM chrM
Start 3682 3682 3682 3683 3683 3683 3684 3684
End 3682 3682 3682 3683 3683 3683 3684 3684
Ref A A A A A A C C
Alt T C G C G T G A
MitImpact id MI.11534 MI.11535 MI.11533 MI.11538 MI.11537 MI.11536 MI.11539 MI.11540
Gene symbol MT-ND1 MT-ND1 MT-ND1 MT-ND1 MT-ND1 MT-ND1 MT-ND1 MT-ND1
Respiratory Chain complex I I I I I I I I
Ensembl gene id ENSG00000198888 ENSG00000198888 ENSG00000198888 ENSG00000198888 ENSG00000198888 ENSG00000198888 ENSG00000198888 ENSG00000198888
Ensembl protein id ENSP00000354687 ENSP00000354687 ENSP00000354687 ENSP00000354687 ENSP00000354687 ENSP00000354687 ENSP00000354687 ENSP00000354687
Ensembl transcript id ENST00000361390 ENST00000361390 ENST00000361390 ENST00000361390 ENST00000361390 ENST00000361390 ENST00000361390 ENST00000361390
Uniprot name NU1M_HUMAN NU1M_HUMAN NU1M_HUMAN NU1M_HUMAN NU1M_HUMAN NU1M_HUMAN NU1M_HUMAN NU1M_HUMAN
Uniprot id P03886 P03886 P03886 P03886 P03886 P03886 P03886 P03886
Ncbi gene id 4535 4535 4535 4535 4535 4535 4535 4535
Ncbi protein id YP_003024026.1 YP_003024026.1 YP_003024026.1 YP_003024026.1 YP_003024026.1 YP_003024026.1 YP_003024026.1 YP_003024026.1
Gene position 376 376 376 377 377 377 378 378
AA position 126 126 126 126 126 126 126 126
AA ref N N N N N N N N
AA alt Y H D T S I K K
Codon substitution Aac/Tac Aac/Cac Aac/Gac aAc/aCc aAc/aGc aAc/aTc aaC/aaG aaC/aaA
PhyloP 100V 8.58539 8.58539 8.58539 6.72618 6.72618 6.72618 1.14854 1.14854
PhastCons 100V 1 1 1 1 1 1 1 1
PolyPhen2 probably_damaging probably_damaging possibly_damaging possibly_damaging possibly_damaging probably_damaging benign benign
PolyPhen2 score 0.96 0.95 0.72 0.72 0.53 0.95 0.03 0.03
SIFT neutral neutral neutral neutral neutral neutral neutral neutral
SIFT score 1.0 0.52 0.2 0.38 0.64 0.4 0.37 0.37
SIFT4G Damaging Damaging Damaging Damaging Damaging Damaging Tolerated Tolerated
SIFT4G score 0 0 0.001 0 0.001 0 1 1
FatHmm deleterious neutral neutral neutral neutral neutral neutral neutral
FatHmm score -3.02 -2.13 -1.0 -1.35 -0.97 -2.63 2.2 2.2
FatHmmW neutral neutral neutral neutral neutral neutral neutral neutral
FatHmmW score 2.68 2.7 2.74 2.72 2.74 2.69 3.23 3.23
PROVEAN neutral neutral neutral neutral neutral deleterious neutral neutral
PROVEAN score -1.98 -1.04 -1.03 -1.05 -0.15 -2.91 4.14 4.14
MutationAssessor medium impact medium impact medium impact medium impact low impact low impact neutral impact neutral impact
MutationAssessor score 2.04 2.59 2.94 2.24 1.24 1.47 -1.8 -1.8
EFIN SP neutral neutral neutral neutral neutral neutral neutral neutral
EFIN SP score 0.68 0.64 0.66 0.63 0.78 0.67 0.7 0.7
EFIN HD neutral neutral damaging neutral neutral neutral neutral neutral
EFIN HD score 0.3 0.28 0.25 0.3 0.28 0.28 0.81 0.81
CADD deleterious deleterious deleterious deleterious deleterious deleterious neutral neutral
CADD score 3.75 3.08 3.84 3.26 2.94 3.75 1.27 1.69
CADD phred 23.3 22.5 23.4 22.8 22 23.3 12.09 14.36
VEST pvalue 0.08 0.4 0.64 0.38 0.55 0.12 0.49 0.49
VEST FDR 0.35 0.5 0.7 0.5 0.6 0.4 0.55 0.55
PANTHER neutral neutral neutral neutral neutral neutral neutral neutral
PANTHER score 0.44 0.34 0.22 0.18 0.14 0.37 0.23 0.23
PhD-SNP disease neutral disease neutral neutral disease neutral neutral
PhD-SNP score 0.7 0.47 0.61 0.49 0.48 0.78 0.05 0.05
SNAP disease disease disease disease neutral disease neutral neutral
SNAP score 0.62 0.63 0.62 0.57 0.49 0.58 0.26 0.26
Meta-SNP disease disease disease disease neutral disease neutral neutral
Meta-SNP score 0.7 0.53 0.7 0.56 0.43 0.72 0.18 0.18
Meta-SNP RI 4 1 4 1 1 4 6 6
CAROL neutral neutral neutral neutral neutral neutral neutral neutral
CAROL score 0.96 0.94 0.85 0.74 0.45 0.95 0.61 0.61
Condel deleterious neutral neutral neutral deleterious neutral deleterious deleterious
Condel score 0.52 0.29 0.24 0.33 0.56 0.23 0.67 0.67
COVEC WMV deleterious deleterious . . neutral neutral neutral neutral
COVEC WMV score 1 1 0 0 -3 -2 -6 -6
MtoolBox deleterious deleterious deleterious deleterious deleterious deleterious neutral neutral
MtoolBox DS 0.75 0.68 0.57 0.54 0.44 0.75 0.12 0.12
PolyPhen2 transf low impact low impact low impact low impact medium impact low impact medium impact medium impact
PolyPhen2 transf score -2.05 -1.95 -1.14 -1.14 -0.8 -1.95 0.67 0.67
SIFT_transf high impact medium impact medium impact medium impact medium impact medium impact medium impact medium impact
SIFT transf score 1.96 0.29 -0.06 0.16 0.42 0.18 0.15 0.15
MutationAssessor transf medium impact medium impact medium impact medium impact medium impact medium impact low impact low impact
MutationAssessor transf score 0.59 1.07 1.38 0.77 -0.11 0.1 -2.76 -2.76
CHASM pvalue 0.17 0.14 0.29 0.2 0.15 0.14 0.41 0.41
CHASM FDR 0.8 0.8 0.8 0.8 0.8 0.8 0.8 0.8
APOGEE1 Neutral Neutral Neutral Pathogenic Pathogenic Neutral Pathogenic Pathogenic
APOGEE1 score 0.23 0.34 0.42 0.67 0.53 0.5 0.62 0.63
APOGEE2 VUS VUS VUS VUS Likely-benign VUS Benign Benign
APOGEE2 score 0.503503464172336 0.456833119106904 0.426443625987166 0.478997614296898 0.244066454164413 0.524145589597711 0.0470912772278902 0.0470912772278902
SNPDryad score 0.93 0.38 0.68 0.43 0.31 0.92 0.11 0.11
MutationTaster polymorphism polymorphism polymorphism polymorphism polymorphism polymorphism polymorphism polymorphism
MutationTaster score 1 1 1 1 1 1 1 1
DEOGEN2 score 0.05 0.05 0.12 0.03 0.01 0.11 0.01 0.01
Mitoclass.1 neutral neutral neutral neutral neutral neutral neutral neutral
dbSNP 155 id . . . . . . . .
ClinVar July2022 Variation id . . . . . . . .
ClinVar July2022 CLNSIG . . . . . . . .
ClinVar July2022 CLNDN . . . . . . . .
ClinVar July2022 CLNDISDB . . . . . . . .
COSMIC 90 . . . . . . . .
MITOMAP Allele . . . . . . . .
MITOMAP Disease Het/Hom . . . . . . . .
MITOMAP Disease Clinical info . . . . . . . .
MITOMAP Disease Status . . . . . . . .
MITOMAP Disease GenBank Freq . . . . . . . .
MITOMAP Disease GenBank Seqs . . . . . . . .
MITOMAP Disease GenBank Curated refs . . . . . . . .
MITOMAP General GenBank Freq . . . . . . . 0.00002
MITOMAP General GenBank Seqs . . . . . . . 1
MITOMAP General Curated refs . . . . . . . 1
gnomAD 3.1 filter . . . . PASS . . PASS
gnomAD 3.1 AC Homo . . . . 0 . . 3
gnomAD 3.1 AC Het . . . . 2 . . 0
gnomAD 3.1 AF Hom . . . . 0 . . 0.00005315944
gnomAD 3.1 AF Het . . . . 0.00003543963 . . 0
gnomAD 3.1 AN . . . . 56434 . . 56434
HelixMTdb AC Hom . . . . . . . .
HelixMTdb AF Hom . . . . . . . .
HelixMTdb AC Het . . . . . . . .
HelixMTdb AF Het . . . . . . . .
HelixMTdb mean ARF . . . . . . . .
HelixMTdb max ARF . . . . . . . .
EVmutation MT-ND1_126N|128A:0.161216;129L:0.079319 MT-ND1_126N|128A:0.161216;129L:0.079319 MT-ND1_126N|128A:0.161216;129L:0.079319 MT-ND1_126N|128A:0.161216;129L:0.079319 MT-ND1_126N|128A:0.161216;129L:0.079319 MT-ND1_126N|128A:0.161216;129L:0.079319 MT-ND1_126N|128A:0.161216;129L:0.079319 MT-ND1_126N|128A:0.161216;129L:0.079319
Site A InterP ND1_126 ND1_126 ND1_126 ND1_126 ND1_126 ND1_126 ND1_126 ND1_126
Site B InterP ND2_241;ND2_308;ND2_281;ND3_22;ND4_333;ND4_421;ND5_301;ND5_309;ND5_373;ND5_549;ND5_37;ND6_126;ND2_166;ND2_281;ND2_286;ND3_18;ND3_45;ND3_112;ND3_49;ND3_46;ND3_21;ND4_363;ND4_62;ND4_345;ND4L_87;ND4L_91;ND5_428;ND5_420;ND5_480;ND6_85;ND6_50 ND2_241;ND2_308;ND2_281;ND3_22;ND4_333;ND4_421;ND5_301;ND5_309;ND5_373;ND5_549;ND5_37;ND6_126;ND2_166;ND2_281;ND2_286;ND3_18;ND3_45;ND3_112;ND3_49;ND3_46;ND3_21;ND4_363;ND4_62;ND4_345;ND4L_87;ND4L_91;ND5_428;ND5_420;ND5_480;ND6_85;ND6_50 ND2_241;ND2_308;ND2_281;ND3_22;ND4_333;ND4_421;ND5_301;ND5_309;ND5_373;ND5_549;ND5_37;ND6_126;ND2_166;ND2_281;ND2_286;ND3_18;ND3_45;ND3_112;ND3_49;ND3_46;ND3_21;ND4_363;ND4_62;ND4_345;ND4L_87;ND4L_91;ND5_428;ND5_420;ND5_480;ND6_85;ND6_50 ND2_241;ND2_308;ND2_281;ND3_22;ND4_333;ND4_421;ND5_301;ND5_309;ND5_373;ND5_549;ND5_37;ND6_126;ND2_166;ND2_281;ND2_286;ND3_18;ND3_45;ND3_112;ND3_49;ND3_46;ND3_21;ND4_363;ND4_62;ND4_345;ND4L_87;ND4L_91;ND5_428;ND5_420;ND5_480;ND6_85;ND6_50 ND2_241;ND2_308;ND2_281;ND3_22;ND4_333;ND4_421;ND5_301;ND5_309;ND5_373;ND5_549;ND5_37;ND6_126;ND2_166;ND2_281;ND2_286;ND3_18;ND3_45;ND3_112;ND3_49;ND3_46;ND3_21;ND4_363;ND4_62;ND4_345;ND4L_87;ND4L_91;ND5_428;ND5_420;ND5_480;ND6_85;ND6_50 ND2_241;ND2_308;ND2_281;ND3_22;ND4_333;ND4_421;ND5_301;ND5_309;ND5_373;ND5_549;ND5_37;ND6_126;ND2_166;ND2_281;ND2_286;ND3_18;ND3_45;ND3_112;ND3_49;ND3_46;ND3_21;ND4_363;ND4_62;ND4_345;ND4L_87;ND4L_91;ND5_428;ND5_420;ND5_480;ND6_85;ND6_50 ND2_241;ND2_308;ND2_281;ND3_22;ND4_333;ND4_421;ND5_301;ND5_309;ND5_373;ND5_549;ND5_37;ND6_126;ND2_166;ND2_281;ND2_286;ND3_18;ND3_45;ND3_112;ND3_49;ND3_46;ND3_21;ND4_363;ND4_62;ND4_345;ND4L_87;ND4L_91;ND5_428;ND5_420;ND5_480;ND6_85;ND6_50 ND2_241;ND2_308;ND2_281;ND3_22;ND4_333;ND4_421;ND5_301;ND5_309;ND5_373;ND5_549;ND5_37;ND6_126;ND2_166;ND2_281;ND2_286;ND3_18;ND3_45;ND3_112;ND3_49;ND3_46;ND3_21;ND4_363;ND4_62;ND4_345;ND4L_87;ND4L_91;ND5_428;ND5_420;ND5_480;ND6_85;ND6_50
Covariation Score InterP mfDCA_37.23;mfDCA_31.67;cMI_47.7782;mfDCA_27.67;mfDCA_27.98;mfDCA_24.54;mfDCA_52.42;mfDCA_50.46;mfDCA_46.59;mfDCA_31.49;mfDCA_29.97;mfDCA_25.5;cMI_69.34426;cMI_47.7782;cMI_46.96695;cMI_52.28324;cMI_41.72575;cMI_41.22761;cMI_38.78658;cMI_38.5613;cMI_38.1969;cMI_28.74507;cMI_27.11921;cMI_24.45732;cMI_49.41002;cMI_45.50344;cMI_33.70751;cMI_31.03174;cMI_29.24682;cMI_62.30736;cMI_52.77064 mfDCA_37.23;mfDCA_31.67;cMI_47.7782;mfDCA_27.67;mfDCA_27.98;mfDCA_24.54;mfDCA_52.42;mfDCA_50.46;mfDCA_46.59;mfDCA_31.49;mfDCA_29.97;mfDCA_25.5;cMI_69.34426;cMI_47.7782;cMI_46.96695;cMI_52.28324;cMI_41.72575;cMI_41.22761;cMI_38.78658;cMI_38.5613;cMI_38.1969;cMI_28.74507;cMI_27.11921;cMI_24.45732;cMI_49.41002;cMI_45.50344;cMI_33.70751;cMI_31.03174;cMI_29.24682;cMI_62.30736;cMI_52.77064 mfDCA_37.23;mfDCA_31.67;cMI_47.7782;mfDCA_27.67;mfDCA_27.98;mfDCA_24.54;mfDCA_52.42;mfDCA_50.46;mfDCA_46.59;mfDCA_31.49;mfDCA_29.97;mfDCA_25.5;cMI_69.34426;cMI_47.7782;cMI_46.96695;cMI_52.28324;cMI_41.72575;cMI_41.22761;cMI_38.78658;cMI_38.5613;cMI_38.1969;cMI_28.74507;cMI_27.11921;cMI_24.45732;cMI_49.41002;cMI_45.50344;cMI_33.70751;cMI_31.03174;cMI_29.24682;cMI_62.30736;cMI_52.77064 mfDCA_37.23;mfDCA_31.67;cMI_47.7782;mfDCA_27.67;mfDCA_27.98;mfDCA_24.54;mfDCA_52.42;mfDCA_50.46;mfDCA_46.59;mfDCA_31.49;mfDCA_29.97;mfDCA_25.5;cMI_69.34426;cMI_47.7782;cMI_46.96695;cMI_52.28324;cMI_41.72575;cMI_41.22761;cMI_38.78658;cMI_38.5613;cMI_38.1969;cMI_28.74507;cMI_27.11921;cMI_24.45732;cMI_49.41002;cMI_45.50344;cMI_33.70751;cMI_31.03174;cMI_29.24682;cMI_62.30736;cMI_52.77064 mfDCA_37.23;mfDCA_31.67;cMI_47.7782;mfDCA_27.67;mfDCA_27.98;mfDCA_24.54;mfDCA_52.42;mfDCA_50.46;mfDCA_46.59;mfDCA_31.49;mfDCA_29.97;mfDCA_25.5;cMI_69.34426;cMI_47.7782;cMI_46.96695;cMI_52.28324;cMI_41.72575;cMI_41.22761;cMI_38.78658;cMI_38.5613;cMI_38.1969;cMI_28.74507;cMI_27.11921;cMI_24.45732;cMI_49.41002;cMI_45.50344;cMI_33.70751;cMI_31.03174;cMI_29.24682;cMI_62.30736;cMI_52.77064 mfDCA_37.23;mfDCA_31.67;cMI_47.7782;mfDCA_27.67;mfDCA_27.98;mfDCA_24.54;mfDCA_52.42;mfDCA_50.46;mfDCA_46.59;mfDCA_31.49;mfDCA_29.97;mfDCA_25.5;cMI_69.34426;cMI_47.7782;cMI_46.96695;cMI_52.28324;cMI_41.72575;cMI_41.22761;cMI_38.78658;cMI_38.5613;cMI_38.1969;cMI_28.74507;cMI_27.11921;cMI_24.45732;cMI_49.41002;cMI_45.50344;cMI_33.70751;cMI_31.03174;cMI_29.24682;cMI_62.30736;cMI_52.77064 mfDCA_37.23;mfDCA_31.67;cMI_47.7782;mfDCA_27.67;mfDCA_27.98;mfDCA_24.54;mfDCA_52.42;mfDCA_50.46;mfDCA_46.59;mfDCA_31.49;mfDCA_29.97;mfDCA_25.5;cMI_69.34426;cMI_47.7782;cMI_46.96695;cMI_52.28324;cMI_41.72575;cMI_41.22761;cMI_38.78658;cMI_38.5613;cMI_38.1969;cMI_28.74507;cMI_27.11921;cMI_24.45732;cMI_49.41002;cMI_45.50344;cMI_33.70751;cMI_31.03174;cMI_29.24682;cMI_62.30736;cMI_52.77064 mfDCA_37.23;mfDCA_31.67;cMI_47.7782;mfDCA_27.67;mfDCA_27.98;mfDCA_24.54;mfDCA_52.42;mfDCA_50.46;mfDCA_46.59;mfDCA_31.49;mfDCA_29.97;mfDCA_25.5;cMI_69.34426;cMI_47.7782;cMI_46.96695;cMI_52.28324;cMI_41.72575;cMI_41.22761;cMI_38.78658;cMI_38.5613;cMI_38.1969;cMI_28.74507;cMI_27.11921;cMI_24.45732;cMI_49.41002;cMI_45.50344;cMI_33.70751;cMI_31.03174;cMI_29.24682;cMI_62.30736;cMI_52.77064
Site A IntraP ND1_126 ND1_126 ND1_126 ND1_126 ND1_126 ND1_126 ND1_126 ND1_126
Site B IntraP ND1_161;ND1_67;ND1_81;ND1_71;ND1_276;ND1_84;ND1_249;ND1_213;ND1_240 ND1_161;ND1_67;ND1_81;ND1_71;ND1_276;ND1_84;ND1_249;ND1_213;ND1_240 ND1_161;ND1_67;ND1_81;ND1_71;ND1_276;ND1_84;ND1_249;ND1_213;ND1_240 ND1_161;ND1_67;ND1_81;ND1_71;ND1_276;ND1_84;ND1_249;ND1_213;ND1_240 ND1_161;ND1_67;ND1_81;ND1_71;ND1_276;ND1_84;ND1_249;ND1_213;ND1_240 ND1_161;ND1_67;ND1_81;ND1_71;ND1_276;ND1_84;ND1_249;ND1_213;ND1_240 ND1_161;ND1_67;ND1_81;ND1_71;ND1_276;ND1_84;ND1_249;ND1_213;ND1_240 ND1_161;ND1_67;ND1_81;ND1_71;ND1_276;ND1_84;ND1_249;ND1_213;ND1_240
Covariation Score IntraP cMI_17.751915;cMI_15.849877;cMI_15.512266;cMI_15.365741;cMI_15.33259;cMI_14.790646;cMI_14.414145;cMI_14.05986;cMI_13.257043 cMI_17.751915;cMI_15.849877;cMI_15.512266;cMI_15.365741;cMI_15.33259;cMI_14.790646;cMI_14.414145;cMI_14.05986;cMI_13.257043 cMI_17.751915;cMI_15.849877;cMI_15.512266;cMI_15.365741;cMI_15.33259;cMI_14.790646;cMI_14.414145;cMI_14.05986;cMI_13.257043 cMI_17.751915;cMI_15.849877;cMI_15.512266;cMI_15.365741;cMI_15.33259;cMI_14.790646;cMI_14.414145;cMI_14.05986;cMI_13.257043 cMI_17.751915;cMI_15.849877;cMI_15.512266;cMI_15.365741;cMI_15.33259;cMI_14.790646;cMI_14.414145;cMI_14.05986;cMI_13.257043 cMI_17.751915;cMI_15.849877;cMI_15.512266;cMI_15.365741;cMI_15.33259;cMI_14.790646;cMI_14.414145;cMI_14.05986;cMI_13.257043 cMI_17.751915;cMI_15.849877;cMI_15.512266;cMI_15.365741;cMI_15.33259;cMI_14.790646;cMI_14.414145;cMI_14.05986;cMI_13.257043 cMI_17.751915;cMI_15.849877;cMI_15.512266;cMI_15.365741;cMI_15.33259;cMI_14.790646;cMI_14.414145;cMI_14.05986;cMI_13.257043
CPD AA ref . . . . . . . .
CPD AA alt . . . . . . . .
CPD Aln pos . . . . . . . .
CPD Frequency . . . . . . . .
CPD Species name . . . . . . . .
CPD RefSeq Protein ID . . . . . . . .
CPD Ncbi Taxon id . . . . . . . .
DDG intra MT-ND1:N126Y:I213L:-2.03197:-1.04055:-0.717595;MT-ND1:N126Y:I213S:-0.647457:-1.04055:0.54308;MT-ND1:N126Y:I213F:-1.38274:-1.04055:-0.142791;MT-ND1:N126Y:I213T:-1.2891:-1.04055:-0.123203;MT-ND1:N126Y:I213V:-1.38109:-1.04055:-0.133635;MT-ND1:N126Y:I213N:-0.777702:-1.04055:0.570276;MT-ND1:N126Y:I213M:-1.61687:-1.04055:-0.483465;MT-ND1:N126Y:A249S:-0.723282:-1.04055:0.416877;MT-ND1:N126Y:A249P:-2.1532:-1.04055:-0.969457;MT-ND1:N126Y:A249V:-0.840571:-1.04055:0.387706;MT-ND1:N126Y:A249G:-0.773844:-1.04055:0.24999;MT-ND1:N126Y:A249E:-1.3226:-1.04055:-0.081467;MT-ND1:N126Y:A249T:-0.634344:-1.04055:0.585672;MT-ND1:N126Y:A276E:-0.963784:-1.04055:0.0557187;MT-ND1:N126Y:A276G:-0.878653:-1.04055:0.386782;MT-ND1:N126Y:A276V:-0.517871:-1.04055:0.62968;MT-ND1:N126Y:A276S:-1.38693:-1.04055:-0.200186;MT-ND1:N126Y:A276P:-0.0305314:-1.04055:1.16054;MT-ND1:N126Y:A276T:-0.494543:-1.04055:0.683193 MT-ND1:N126H:I213M:-1.09881:-0.611863:-0.483465;MT-ND1:N126H:I213F:-0.87268:-0.611863:-0.142791;MT-ND1:N126H:I213V:-0.637399:-0.611863:-0.133635;MT-ND1:N126H:I213N:-0.0260564:-0.611863:0.570276;MT-ND1:N126H:I213S:0.0570077:-0.611863:0.54308;MT-ND1:N126H:I213L:-1.34997:-0.611863:-0.717595;MT-ND1:N126H:I213T:-0.65633:-0.611863:-0.123203;MT-ND1:N126H:A249S:-0.198075:-0.611863:0.416877;MT-ND1:N126H:A249T:0.0464597:-0.611863:0.585672;MT-ND1:N126H:A249V:-0.214322:-0.611863:0.387706;MT-ND1:N126H:A249P:-1.57716:-0.611863:-0.969457;MT-ND1:N126H:A249E:-0.717267:-0.611863:-0.081467;MT-ND1:N126H:A249G:-0.327082:-0.611863:0.24999;MT-ND1:N126H:A276S:-0.780954:-0.611863:-0.200186;MT-ND1:N126H:A276G:-0.211246:-0.611863:0.386782;MT-ND1:N126H:A276E:-0.529948:-0.611863:0.0557187;MT-ND1:N126H:A276P:0.617763:-0.611863:1.16054;MT-ND1:N126H:A276V:0.0245213:-0.611863:0.62968;MT-ND1:N126H:A276T:0.0825789:-0.611863:0.683193 MT-ND1:N126D:I213N:-0.80312:-1.35328:0.570276;MT-ND1:N126D:I213S:-0.715128:-1.35328:0.54308;MT-ND1:N126D:I213F:-1.56103:-1.35328:-0.142791;MT-ND1:N126D:I213V:-1.34912:-1.35328:-0.133635;MT-ND1:N126D:I213T:-1.36419:-1.35328:-0.123203;MT-ND1:N126D:I213L:-2.06085:-1.35328:-0.717595;MT-ND1:N126D:I213M:-1.88268:-1.35328:-0.483465;MT-ND1:N126D:A249P:-2.33383:-1.35328:-0.969457;MT-ND1:N126D:A249T:-0.73683:-1.35328:0.585672;MT-ND1:N126D:A249V:-0.941099:-1.35328:0.387706;MT-ND1:N126D:A249S:-0.947884:-1.35328:0.416877;MT-ND1:N126D:A249E:-1.38265:-1.35328:-0.081467;MT-ND1:N126D:A249G:-1.0733:-1.35328:0.24999;MT-ND1:N126D:A276S:-1.51652:-1.35328:-0.200186;MT-ND1:N126D:A276G:-0.980347:-1.35328:0.386782;MT-ND1:N126D:A276E:-1.26429:-1.35328:0.0557187;MT-ND1:N126D:A276P:-0.238444:-1.35328:1.16054;MT-ND1:N126D:A276V:-0.724091:-1.35328:0.62968;MT-ND1:N126D:A276T:-0.688079:-1.35328:0.683193 MT-ND1:N126T:I213F:-0.161443:0.0249942:-0.142791;MT-ND1:N126T:I213S:0.563877:0.0249942:0.54308;MT-ND1:N126T:I213L:-0.714951:0.0249942:-0.717595;MT-ND1:N126T:I213N:0.518234:0.0249942:0.570276;MT-ND1:N126T:I213T:-0.0862825:0.0249942:-0.123203;MT-ND1:N126T:I213M:-0.484902:0.0249942:-0.483465;MT-ND1:N126T:I213V:-0.0450998:0.0249942:-0.133635;MT-ND1:N126T:A249P:-0.962049:0.0249942:-0.969457;MT-ND1:N126T:A249E:0.0931174:0.0249942:-0.081467;MT-ND1:N126T:A249G:0.296433:0.0249942:0.24999;MT-ND1:N126T:A249S:0.435213:0.0249942:0.416877;MT-ND1:N126T:A249T:0.593129:0.0249942:0.585672;MT-ND1:N126T:A249V:0.425138:0.0249942:0.387706;MT-ND1:N126T:A276S:-0.206018:0.0249942:-0.200186;MT-ND1:N126T:A276P:1.1948:0.0249942:1.16054;MT-ND1:N126T:A276V:0.678573:0.0249942:0.62968;MT-ND1:N126T:A276T:0.727631:0.0249942:0.683193;MT-ND1:N126T:A276G:0.421614:0.0249942:0.386782;MT-ND1:N126T:A276E:0.103294:0.0249942:0.0557187 MT-ND1:N126S:I213S:0.773977:0.210032:0.54308;MT-ND1:N126S:I213F:0.00909783:0.210032:-0.142791;MT-ND1:N126S:I213N:0.585099:0.210032:0.570276;MT-ND1:N126S:I213L:-0.515264:0.210032:-0.717595;MT-ND1:N126S:I213T:0.103584:0.210032:-0.123203;MT-ND1:N126S:I213M:-0.25648:0.210032:-0.483465;MT-ND1:N126S:I213V:0.177965:0.210032:-0.133635;MT-ND1:N126S:A249E:0.242351:0.210032:-0.081467;MT-ND1:N126S:A249G:0.496239:0.210032:0.24999;MT-ND1:N126S:A249S:0.616427:0.210032:0.416877;MT-ND1:N126S:A249T:0.814568:0.210032:0.585672;MT-ND1:N126S:A249V:0.608905:0.210032:0.387706;MT-ND1:N126S:A249P:-0.743712:0.210032:-0.969457;MT-ND1:N126S:A276T:0.871773:0.210032:0.683193;MT-ND1:N126S:A276G:0.586774:0.210032:0.386782;MT-ND1:N126S:A276P:1.49278:0.210032:1.16054;MT-ND1:N126S:A276V:0.852967:0.210032:0.62968;MT-ND1:N126S:A276E:0.283738:0.210032:0.0557187;MT-ND1:N126S:A276S:0.0186631:0.210032:-0.200186 MT-ND1:N126I:I213N:-0.568668:-1.02185:0.570276;MT-ND1:N126I:I213S:-0.429043:-1.02185:0.54308;MT-ND1:N126I:I213L:-1.8485:-1.02185:-0.717595;MT-ND1:N126I:I213T:-1.10267:-1.02185:-0.123203;MT-ND1:N126I:I213V:-1.18064:-1.02185:-0.133635;MT-ND1:N126I:I213F:-1.19071:-1.02185:-0.142791;MT-ND1:N126I:A249G:-0.776523:-1.02185:0.24999;MT-ND1:N126I:A249V:-0.670835:-1.02185:0.387706;MT-ND1:N126I:A249E:-0.916627:-1.02185:-0.081467;MT-ND1:N126I:A249T:-0.41351:-1.02185:0.585672;MT-ND1:N126I:A249P:-1.9954:-1.02185:-0.969457;MT-ND1:N126I:A276V:-0.395256:-1.02185:0.62968;MT-ND1:N126I:A276E:-0.975685:-1.02185:0.0557187;MT-ND1:N126I:A276P:0.183424:-1.02185:1.16054;MT-ND1:N126I:A276G:-0.613625:-1.02185:0.386782;MT-ND1:N126I:A276S:-1.21579:-1.02185:-0.200186;MT-ND1:N126I:A276T:-0.310528:-1.02185:0.683193;MT-ND1:N126I:A249S:-0.624187:-1.02185:0.416877;MT-ND1:N126I:I213M:-1.49176:-1.02185:-0.483465 MT-ND1:N126K:I213M:-1.22772:-0.694078:-0.483465;MT-ND1:N126K:I213V:-0.7669:-0.694078:-0.133635;MT-ND1:N126K:I213T:-0.770749:-0.694078:-0.123203;MT-ND1:N126K:I213L:-1.44404:-0.694078:-0.717595;MT-ND1:N126K:I213F:-0.974428:-0.694078:-0.142791;MT-ND1:N126K:I213N:-0.206493:-0.694078:0.570276;MT-ND1:N126K:I213S:-0.124558:-0.694078:0.54308;MT-ND1:N126K:A249S:-0.27373:-0.694078:0.416877;MT-ND1:N126K:A249V:-0.2602:-0.694078:0.387706;MT-ND1:N126K:A249E:-0.699514:-0.694078:-0.081467;MT-ND1:N126K:A249P:-1.68144:-0.694078:-0.969457;MT-ND1:N126K:A249G:-0.448006:-0.694078:0.24999;MT-ND1:N126K:A249T:-0.158863:-0.694078:0.585672;MT-ND1:N126K:A276V:-0.0985182:-0.694078:0.62968;MT-ND1:N126K:A276T:-0.0597012:-0.694078:0.683193;MT-ND1:N126K:A276G:-0.310009:-0.694078:0.386782;MT-ND1:N126K:A276P:0.614259:-0.694078:1.16054;MT-ND1:N126K:A276E:-0.673986:-0.694078:0.0557187;MT-ND1:N126K:A276S:-0.930457:-0.694078:-0.200186 MT-ND1:N126K:I213M:-1.22772:-0.694078:-0.483465;MT-ND1:N126K:I213V:-0.7669:-0.694078:-0.133635;MT-ND1:N126K:I213T:-0.770749:-0.694078:-0.123203;MT-ND1:N126K:I213L:-1.44404:-0.694078:-0.717595;MT-ND1:N126K:I213F:-0.974428:-0.694078:-0.142791;MT-ND1:N126K:I213N:-0.206493:-0.694078:0.570276;MT-ND1:N126K:I213S:-0.124558:-0.694078:0.54308;MT-ND1:N126K:A249S:-0.27373:-0.694078:0.416877;MT-ND1:N126K:A249V:-0.2602:-0.694078:0.387706;MT-ND1:N126K:A249E:-0.699514:-0.694078:-0.081467;MT-ND1:N126K:A249P:-1.68144:-0.694078:-0.969457;MT-ND1:N126K:A249G:-0.448006:-0.694078:0.24999;MT-ND1:N126K:A249T:-0.158863:-0.694078:0.585672;MT-ND1:N126K:A276V:-0.0985182:-0.694078:0.62968;MT-ND1:N126K:A276T:-0.0597012:-0.694078:0.683193;MT-ND1:N126K:A276G:-0.310009:-0.694078:0.386782;MT-ND1:N126K:A276P:0.614259:-0.694078:1.16054;MT-ND1:N126K:A276E:-0.673986:-0.694078:0.0557187;MT-ND1:N126K:A276S:-0.930457:-0.694078:-0.200186
DDG intra interface MT-ND1:MT-ND3:5lc5:H:A:N126Y:I213F:0.77731:0.68039:0.26227;MT-ND1:MT-ND3:5lc5:H:A:N126Y:I213L:0.58006:0.68039:0.02712;MT-ND1:MT-ND3:5lc5:H:A:N126Y:I213M:0.68873:0.68039:0.09873;MT-ND1:MT-ND3:5lc5:H:A:N126Y:I213N:0.35031:0.68039:-0.64295;MT-ND1:MT-ND3:5lc5:H:A:N126Y:I213S:0.72529:0.68039:-0.01554;MT-ND1:MT-ND3:5lc5:H:A:N126Y:I213T:0.69641:0.68039:0.0437;MT-ND1:MT-ND3:5lc5:H:A:N126Y:I213V:0.1989:0.68039:-0.24876;MT-ND1:MT-ND3:5ldw:H:A:N126Y:I213F:0.13913:0.14217:0.18591;MT-ND1:MT-ND3:5ldw:H:A:N126Y:I213L:0.18362:0.14217:0.01373;MT-ND1:MT-ND3:5ldw:H:A:N126Y:I213M:0.17563:0.14217:0.02308;MT-ND1:MT-ND3:5ldw:H:A:N126Y:I213N:-0.00344000000001:0.14217:-0.48608;MT-ND1:MT-ND3:5ldw:H:A:N126Y:I213S:0.16638:0.14217:-0.02555;MT-ND1:MT-ND3:5ldw:H:A:N126Y:I213T:0.12482:0.14217:-0.05294;MT-ND1:MT-ND3:5ldw:H:A:N126Y:I213V:0.08901:0.14217:-0.05191;MT-ND1:MT-ND3:5ldx:H:A:N126Y:I213F:0.49199:0.47122:0.10641;MT-ND1:MT-ND3:5ldx:H:A:N126Y:I213L:0.47503:0.47122:0.03409;MT-ND1:MT-ND3:5ldx:H:A:N126Y:I213M:0.45792:0.47122:0.03281;MT-ND1:MT-ND3:5ldx:H:A:N126Y:I213N:0.34377:0.47122:-0.31828;MT-ND1:MT-ND3:5ldx:H:A:N126Y:I213S:0.49025:0.47122:-0.03982;MT-ND1:MT-ND3:5ldx:H:A:N126Y:I213T:0.53597:0.47122:-0.06167;MT-ND1:MT-ND3:5ldx:H:A:N126Y:I213V:0.52783:0.47122:-0.01765;MT-ND1:NDUFS2:5lc5:H:D:N126Y:A276E:-0.48675:-0.4652:-0.00958;MT-ND1:NDUFS2:5lc5:H:D:N126Y:A276G:0.03308:-0.4652:0.45938;MT-ND1:NDUFS2:5lc5:H:D:N126Y:A276P:0.11406:-0.4652:0.4897;MT-ND1:NDUFS2:5lc5:H:D:N126Y:A276S:-0.24443:-0.4652:0.22672;MT-ND1:NDUFS2:5lc5:H:D:N126Y:A276T:-0.49103:-0.4652:-0.30414;MT-ND1:NDUFS2:5lc5:H:D:N126Y:A276V:-0.88151:-0.4652:-0.40074;MT-ND1:NDUFS2:5ldw:H:D:N126Y:A276E:0.1968317:-0.32056694:0.4444985;MT-ND1:NDUFS2:5ldw:H:D:N126Y:A276G:0.2854171:-0.32056694:0.5169461;MT-ND1:NDUFS2:5ldw:H:D:N126Y:A276P:-0.0606264:-0.32056694:0.1625805;MT-ND1:NDUFS2:5ldw:H:D:N126Y:A276S:-0.6798049:-0.32056694:-0.3965543;MT-ND1:NDUFS2:5ldw:H:D:N126Y:A276T:-0.72803793:-0.32056694:-0.2743957;MT-ND1:NDUFS2:5ldw:H:D:N126Y:A276V:-0.4121149:-0.32056694:-0.0879116;MT-ND1:NDUFS2:5ldx:H:D:N126Y:A276E:-0.47475098:-0.3729458:0.21912504;MT-ND1:NDUFS2:5ldx:H:D:N126Y:A276G:-0.244667305:-0.3729458:0.1624912;MT-ND1:NDUFS2:5ldx:H:D:N126Y:A276P:-0.1361092581:-0.3729458:0.1954252;MT-ND1:NDUFS2:5ldx:H:D:N126Y:A276S:-0.08539515:-0.3729458:0.2913374;MT-ND1:NDUFS2:5ldx:H:D:N126Y:A276T:-0.9434296:-0.3729458:-0.6121604;MT-ND1:NDUFS2:5ldx:H:D:N126Y:A276V:-0.325001256:-0.3729458:-0.2327356 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MT-ND1:MT-ND3:5lc5:H:A:N126K:I213F:0.49754:0.39067:0.26227;MT-ND1:MT-ND3:5lc5:H:A:N126K:I213L:0.50516:0.39067:0.02712;MT-ND1:MT-ND3:5lc5:H:A:N126K:I213M:0.65707:0.39067:0.09873;MT-ND1:MT-ND3:5lc5:H:A:N126K:I213N:-0.23573:0.39067:-0.64295;MT-ND1:MT-ND3:5lc5:H:A:N126K:I213S:0.58293:0.39067:-0.01554;MT-ND1:MT-ND3:5lc5:H:A:N126K:I213T:0.29141:0.39067:0.0437;MT-ND1:MT-ND3:5lc5:H:A:N126K:I213V:0.16195:0.39067:-0.24876;MT-ND1:MT-ND3:5ldw:H:A:N126K:I213F:0.0437:-0.13726:0.18591;MT-ND1:MT-ND3:5ldw:H:A:N126K:I213L:-0.04437:-0.13726:0.01373;MT-ND1:MT-ND3:5ldw:H:A:N126K:I213M:0.02401:-0.13726:0.02308;MT-ND1:MT-ND3:5ldw:H:A:N126K:I213N:-0.27174:-0.13726:-0.48608;MT-ND1:MT-ND3:5ldw:H:A:N126K:I213S:-0.13648:-0.13726:-0.02555;MT-ND1:MT-ND3:5ldw:H:A:N126K:I213T:-0.12464:-0.13726:-0.05294;MT-ND1:MT-ND3:5ldw:H:A:N126K:I213V:-0.03989:-0.13726:-0.05191;MT-ND1:MT-ND3:5ldx:H:A:N126K:I213F:0.04482:0.22525:0.10641;MT-ND1:MT-ND3:5ldx:H:A:N126K:I213L:0.38613:0.22525:0.03409;MT-ND1:MT-ND3:5ldx:H:A:N126K:I213M:0.40779:0.22525:0.03281;MT-ND1:MT-ND3:5ldx:H:A:N126K:I213N:0.10833:0.22525:-0.31828;MT-ND1:MT-ND3:5ldx:H:A:N126K:I213S:0.31437:0.22525:-0.03982;MT-ND1:MT-ND3:5ldx:H:A:N126K:I213T:0.37564:0.22525:-0.06167;MT-ND1:MT-ND3:5ldx:H:A:N126K:I213V:0.35195:0.22525:-0.01765;MT-ND1:NDUFS2:5lc5:H:D:N126K:A276E:-0.98124:-1.13044:-0.00958;MT-ND1:NDUFS2:5lc5:H:D:N126K:A276G:-0.66335:-1.13044:0.45938;MT-ND1:NDUFS2:5lc5:H:D:N126K:A276P:-0.47804:-1.13044:0.4897;MT-ND1:NDUFS2:5lc5:H:D:N126K:A276S:-0.86646:-1.13044:0.22672;MT-ND1:NDUFS2:5lc5:H:D:N126K:A276T:-1.36649:-1.13044:-0.30414;MT-ND1:NDUFS2:5lc5:H:D:N126K:A276V:-1.55567:-1.13044:-0.40074;MT-ND1:NDUFS2:5ldw:H:D:N126K:A276E:0.2681222:-0.189033:0.4444985;MT-ND1:NDUFS2:5ldw:H:D:N126K:A276G:0.0695735:-0.189033:0.5169461;MT-ND1:NDUFS2:5ldw:H:D:N126K:A276P:0.059423236:-0.189033:0.1625805;MT-ND1:NDUFS2:5ldw:H:D:N126K:A276S:-0.6524438:-0.189033:-0.3965543;MT-ND1:NDUFS2:5ldw:H:D:N126K:A276T:-0.5528349:-0.189033:-0.2743957;MT-ND1:NDUFS2:5ldw:H:D:N126K:A276V:-0.17823476:-0.189033:-0.0879116;MT-ND1:NDUFS2:5ldx:H:D:N126K:A276E:-0.31812917:-0.4004477:0.21912504;MT-ND1:NDUFS2:5ldx:H:D:N126K:A276G:-0.19093913:-0.4004477:0.1624912;MT-ND1:NDUFS2:5ldx:H:D:N126K:A276P:-0.29156192:-0.4004477:0.1954252;MT-ND1:NDUFS2:5ldx:H:D:N126K:A276S:-0.11178995:-0.4004477:0.2913374;MT-ND1:NDUFS2:5ldx:H:D:N126K:A276T:-0.890995874:-0.4004477:-0.6121604;MT-ND1:NDUFS2:5ldx:H:D:N126K:A276V:-0.62977184:-0.4004477:-0.2327356 MT-ND1:MT-ND3:5lc5:H:A:N126K:I213F:0.49754:0.39067:0.26227;MT-ND1:MT-ND3:5lc5:H:A:N126K:I213L:0.50516:0.39067:0.02712;MT-ND1:MT-ND3:5lc5:H:A:N126K:I213M:0.65707:0.39067:0.09873;MT-ND1:MT-ND3:5lc5:H:A:N126K:I213N:-0.23573:0.39067:-0.64295;MT-ND1:MT-ND3:5lc5:H:A:N126K:I213S:0.58293:0.39067:-0.01554;MT-ND1:MT-ND3:5lc5:H:A:N126K:I213T:0.29141:0.39067:0.0437;MT-ND1:MT-ND3:5lc5:H:A:N126K:I213V:0.16195:0.39067:-0.24876;MT-ND1:MT-ND3:5ldw:H:A:N126K:I213F:0.0437:-0.13726:0.18591;MT-ND1:MT-ND3:5ldw:H:A:N126K:I213L:-0.04437:-0.13726:0.01373;MT-ND1:MT-ND3:5ldw:H:A:N126K:I213M:0.02401:-0.13726:0.02308;MT-ND1:MT-ND3:5ldw:H:A:N126K:I213N:-0.27174:-0.13726:-0.48608;MT-ND1:MT-ND3:5ldw:H:A:N126K:I213S:-0.13648:-0.13726:-0.02555;MT-ND1:MT-ND3:5ldw:H:A:N126K:I213T:-0.12464:-0.13726:-0.05294;MT-ND1:MT-ND3:5ldw:H:A:N126K:I213V:-0.03989:-0.13726:-0.05191;MT-ND1:MT-ND3:5ldx:H:A:N126K:I213F:0.04482:0.22525:0.10641;MT-ND1:MT-ND3:5ldx:H:A:N126K:I213L:0.38613:0.22525:0.03409;MT-ND1:MT-ND3:5ldx:H:A:N126K:I213M:0.40779:0.22525:0.03281;MT-ND1:MT-ND3:5ldx:H:A:N126K:I213N:0.10833:0.22525:-0.31828;MT-ND1:MT-ND3:5ldx:H:A:N126K:I213S:0.31437:0.22525:-0.03982;MT-ND1:MT-ND3:5ldx:H:A:N126K:I213T:0.37564:0.22525:-0.06167;MT-ND1:MT-ND3:5ldx:H:A:N126K:I213V:0.35195:0.22525:-0.01765;MT-ND1:NDUFS2:5lc5:H:D:N126K:A276E:-0.98124:-1.13044:-0.00958;MT-ND1:NDUFS2:5lc5:H:D:N126K:A276G:-0.66335:-1.13044:0.45938;MT-ND1:NDUFS2:5lc5:H:D:N126K:A276P:-0.47804:-1.13044:0.4897;MT-ND1:NDUFS2:5lc5:H:D:N126K:A276S:-0.86646:-1.13044:0.22672;MT-ND1:NDUFS2:5lc5:H:D:N126K:A276T:-1.36649:-1.13044:-0.30414;MT-ND1:NDUFS2:5lc5:H:D:N126K:A276V:-1.55567:-1.13044:-0.40074;MT-ND1:NDUFS2:5ldw:H:D:N126K:A276E:0.2681222:-0.189033:0.4444985;MT-ND1:NDUFS2:5ldw:H:D:N126K:A276G:0.0695735:-0.189033:0.5169461;MT-ND1:NDUFS2:5ldw:H:D:N126K:A276P:0.059423236:-0.189033:0.1625805;MT-ND1:NDUFS2:5ldw:H:D:N126K:A276S:-0.6524438:-0.189033:-0.3965543;MT-ND1:NDUFS2:5ldw:H:D:N126K:A276T:-0.5528349:-0.189033:-0.2743957;MT-ND1:NDUFS2:5ldw:H:D:N126K:A276V:-0.17823476:-0.189033:-0.0879116;MT-ND1:NDUFS2:5ldx:H:D:N126K:A276E:-0.31812917:-0.4004477:0.21912504;MT-ND1:NDUFS2:5ldx:H:D:N126K:A276G:-0.19093913:-0.4004477:0.1624912;MT-ND1:NDUFS2:5ldx:H:D:N126K:A276P:-0.29156192:-0.4004477:0.1954252;MT-ND1:NDUFS2:5ldx:H:D:N126K:A276S:-0.11178995:-0.4004477:0.2913374;MT-ND1:NDUFS2:5ldx:H:D:N126K:A276T:-0.890995874:-0.4004477:-0.6121604;MT-ND1:NDUFS2:5ldx:H:D:N126K:A276V:-0.62977184:-0.4004477:-0.2327356
DDG inter 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MT-ND1:MT-ND3:5lc5:H:A:N126K:D112N:0.29384:0.553079605:-0.230379492;MT-ND1:MT-ND3:5lc5:H:A:N126K:D112E:0.88432:0.553079605:0.438530743;MT-ND1:MT-ND3:5lc5:H:A:N126K:D112H:0.73693:0.553079605:0.331509769;MT-ND1:MT-ND3:5lc5:H:A:N126K:D112A:0.80586:0.553079605:0.367700577;MT-ND1:MT-ND3:5lc5:H:A:N126K:D112Y:0.98131:0.553079605:0.46697998;MT-ND1:MT-ND3:5lc5:H:A:N126K:D112G:0.78874:0.553079605:0.420539469;MT-ND1:MT-ND3:5lc5:H:A:N126K:D112V:1.01768:0.553079605:0.490299225;MT-ND1:MT-ND3:5lc5:H:A:N126K:S45F:0.31403:0.553079605:-0.184449762;MT-ND1:MT-ND3:5lc5:H:A:N126K:S45A:0.47411:0.553079605:-0.0903697982;MT-ND1:MT-ND3:5lc5:H:A:N126K:S45P:-0.06355:0.553079605:-1.09178007;MT-ND1:MT-ND3:5lc5:H:A:N126K:S45T:0.29244:0.553079605:0.215980917;MT-ND1:MT-ND3:5lc5:H:A:N126K:S45C:0.39591:0.553079605:-0.407060623;MT-ND1:MT-ND3:5lc5:H:A:N126K:S45Y:0.27954:0.553079605:-0.209069446;MT-ND1:MT-ND3:5ldw:H:A:N126K:D112N:-0.30682:-0.182450861:-0.179788589;MT-ND1:MT-ND3:5ldw:H:A:N126K:D112E:-0.14472:-0.182450861:-0.0375785828;MT-ND1:MT-ND3:5ldw:H:A:N126K:D112H:-0.26985:-0.182450861:-0.104170226;MT-ND1:MT-ND3:5ldw:H:A:N126K:D112A:0.31089:-0.182450861:0.565000534;MT-ND1:MT-ND3:5ldw:H:A:N126K:D112Y:0.75143:-0.182450861:0.731909573;MT-ND1:MT-ND3:5ldw:H:A:N126K:D112G:0.43149:-0.182450861:0.59258002;MT-ND1:MT-ND3:5ldw:H:A:N126K:D112V:0.49907:-0.182450861:0.666999817;MT-ND1:MT-ND3:5ldw:H:A:N126K:P46S:-0.00517:-0.182450861:0.256430447;MT-ND1:MT-ND3:5ldw:H:A:N126K:P46A:-0.1065:-0.182450861:0.124702454;MT-ND1:MT-ND3:5ldw:H:A:N126K:P46H:-0.28414:-0.182450861:-0.123018265;MT-ND1:MT-ND3:5ldw:H:A:N126K:P46T:0.29926:-0.182450861:0.476390839;MT-ND1:MT-ND3:5ldw:H:A:N126K:P46L:-0.63383:-0.182450861:-0.427488327;MT-ND1:MT-ND3:5ldw:H:A:N126K:P46R:-0.56155:-0.182450861:-0.374820709;MT-ND1:MT-ND3:5ldw:H:A:N126K:S45F:0.68767:-0.182450861:0.122009657;MT-ND1:MT-ND3:5ldw:H:A:N126K:S45A:0.05685:-0.182450861:-0.0156085966;MT-ND1:MT-ND3:5ldw:H:A:N126K:S45P:-0.13148:-0.182450861:-0.288380057;MT-ND1:MT-ND3:5ldw:H:A:N126K:S45T:-0.14316:-0.182450861:0.170780182;MT-ND1:MT-ND3:5ldw:H:A:N126K:S45C:0.69869:-0.182450861:-0.0661293045;MT-ND1:MT-ND3:5ldw:H:A:N126K:S45Y:0.7488:-0.182450861:0.377010345;MT-ND1:MT-ND3:5ldx:H:A:N126K:D112N:0.57051:0.152239606:0.381619632;MT-ND1:MT-ND3:5ldx:H:A:N126K:D112E:0.17907:0.152239606:-0.0294204708;MT-ND1:MT-ND3:5ldx:H:A:N126K:D112H:0.55092:0.152239606:0.369738758;MT-ND1:MT-ND3:5ldx:H:A:N126K:D112A:0.29107:0.152239606:0.172319025;MT-ND1:MT-ND3:5ldx:H:A:N126K:D112Y:0.5436:0.152239606:0.368209064;MT-ND1:MT-ND3:5ldx:H:A:N126K:D112G:0.47871:0.152239606:0.296100616;MT-ND1:MT-ND3:5ldx:H:A:N126K:D112V:0.34182:0.152239606:0.213339239;MT-ND1:MT-ND3:5ldx:H:A:N126K:P46S:0.41844:0.152239606:0.202388763;MT-ND1:MT-ND3:5ldx:H:A:N126K:P46A:0.83017:0.152239606:0.17194137;MT-ND1:MT-ND3:5ldx:H:A:N126K:P46H:0.29145:0.152239606:-0.150340647;MT-ND1:MT-ND3:5ldx:H:A:N126K:P46T:0.30471:0.152239606:0.200049967;MT-ND1:MT-ND3:5ldx:H:A:N126K:P46L:0.56699:0.152239606:-0.57003057;MT-ND1:MT-ND3:5ldx:H:A:N126K:P46R:-0.45605:0.152239606:-0.366769791;MT-ND1:MT-ND3:5ldx:H:A:N126K:S45F:1.08193:0.152239606:0.507999063;MT-ND1:MT-ND3:5ldx:H:A:N126K:S45A:0.98402:0.152239606:0.531179786;MT-ND1:MT-ND3:5ldx:H:A:N126K:S45P:0.51943:0.152239606:0.854759216;MT-ND1:MT-ND3:5ldx:H:A:N126K:S45T:0.06326:0.152239606:0.424250036;MT-ND1:MT-ND3:5ldx:H:A:N126K:S45C:0.82719:0.152239606:0.429790109;MT-ND1:MT-ND3:5ldx:H:A:N126K:S45Y:1.06765:0.152239606:0.507420719 MT-ND1:MT-ND3:5lc5:H:A:N126K:D112N:0.29384:0.553079605:-0.230379492;MT-ND1:MT-ND3:5lc5:H:A:N126K:D112E:0.88432:0.553079605:0.438530743;MT-ND1:MT-ND3:5lc5:H:A:N126K:D112H:0.73693:0.553079605:0.331509769;MT-ND1:MT-ND3:5lc5:H:A:N126K:D112A:0.80586:0.553079605:0.367700577;MT-ND1:MT-ND3:5lc5:H:A:N126K:D112Y:0.98131:0.553079605:0.46697998;MT-ND1:MT-ND3:5lc5:H:A:N126K:D112G:0.78874:0.553079605:0.420539469;MT-ND1:MT-ND3:5lc5:H:A:N126K:D112V:1.01768:0.553079605:0.490299225;MT-ND1:MT-ND3:5lc5:H:A:N126K:S45F:0.31403:0.553079605:-0.184449762;MT-ND1:MT-ND3:5lc5:H:A:N126K:S45A:0.47411:0.553079605:-0.0903697982;MT-ND1:MT-ND3:5lc5:H:A:N126K:S45P:-0.06355:0.553079605:-1.09178007;MT-ND1:MT-ND3:5lc5:H:A:N126K:S45T:0.29244:0.553079605:0.215980917;MT-ND1:MT-ND3:5lc5:H:A:N126K:S45C:0.39591:0.553079605:-0.407060623;MT-ND1:MT-ND3:5lc5:H:A:N126K:S45Y:0.27954:0.553079605:-0.209069446;MT-ND1:MT-ND3:5ldw:H:A:N126K:D112N:-0.30682:-0.182450861:-0.179788589;MT-ND1:MT-ND3:5ldw:H:A:N126K:D112E:-0.14472:-0.182450861:-0.0375785828;MT-ND1:MT-ND3:5ldw:H:A:N126K:D112H:-0.26985:-0.182450861:-0.104170226;MT-ND1:MT-ND3:5ldw:H:A:N126K:D112A:0.31089:-0.182450861:0.565000534;MT-ND1:MT-ND3:5ldw:H:A:N126K:D112Y:0.75143:-0.182450861:0.731909573;MT-ND1:MT-ND3:5ldw:H:A:N126K:D112G:0.43149:-0.182450861:0.59258002;MT-ND1:MT-ND3:5ldw:H:A:N126K:D112V:0.49907:-0.182450861:0.666999817;MT-ND1:MT-ND3:5ldw:H:A:N126K:P46S:-0.00517:-0.182450861:0.256430447;MT-ND1:MT-ND3:5ldw:H:A:N126K:P46A:-0.1065:-0.182450861:0.124702454;MT-ND1:MT-ND3:5ldw:H:A:N126K:P46H:-0.28414:-0.182450861:-0.123018265;MT-ND1:MT-ND3:5ldw:H:A:N126K:P46T:0.29926:-0.182450861:0.476390839;MT-ND1:MT-ND3:5ldw:H:A:N126K:P46L:-0.63383:-0.182450861:-0.427488327;MT-ND1:MT-ND3:5ldw:H:A:N126K:P46R:-0.56155:-0.182450861:-0.374820709;MT-ND1:MT-ND3:5ldw:H:A:N126K:S45F:0.68767:-0.182450861:0.122009657;MT-ND1:MT-ND3:5ldw:H:A:N126K:S45A:0.05685:-0.182450861:-0.0156085966;MT-ND1:MT-ND3:5ldw:H:A:N126K:S45P:-0.13148:-0.182450861:-0.288380057;MT-ND1:MT-ND3:5ldw:H:A:N126K:S45T:-0.14316:-0.182450861:0.170780182;MT-ND1:MT-ND3:5ldw:H:A:N126K:S45C:0.69869:-0.182450861:-0.0661293045;MT-ND1:MT-ND3:5ldw:H:A:N126K:S45Y:0.7488:-0.182450861:0.377010345;MT-ND1:MT-ND3:5ldx:H:A:N126K:D112N:0.57051:0.152239606:0.381619632;MT-ND1:MT-ND3:5ldx:H:A:N126K:D112E:0.17907:0.152239606:-0.0294204708;MT-ND1:MT-ND3:5ldx:H:A:N126K:D112H:0.55092:0.152239606:0.369738758;MT-ND1:MT-ND3:5ldx:H:A:N126K:D112A:0.29107:0.152239606:0.172319025;MT-ND1:MT-ND3:5ldx:H:A:N126K:D112Y:0.5436:0.152239606:0.368209064;MT-ND1:MT-ND3:5ldx:H:A:N126K:D112G:0.47871:0.152239606:0.296100616;MT-ND1:MT-ND3:5ldx:H:A:N126K:D112V:0.34182:0.152239606:0.213339239;MT-ND1:MT-ND3:5ldx:H:A:N126K:P46S:0.41844:0.152239606:0.202388763;MT-ND1:MT-ND3:5ldx:H:A:N126K:P46A:0.83017:0.152239606:0.17194137;MT-ND1:MT-ND3:5ldx:H:A:N126K:P46H:0.29145:0.152239606:-0.150340647;MT-ND1:MT-ND3:5ldx:H:A:N126K:P46T:0.30471:0.152239606:0.200049967;MT-ND1:MT-ND3:5ldx:H:A:N126K:P46L:0.56699:0.152239606:-0.57003057;MT-ND1:MT-ND3:5ldx:H:A:N126K:P46R:-0.45605:0.152239606:-0.366769791;MT-ND1:MT-ND3:5ldx:H:A:N126K:S45F:1.08193:0.152239606:0.507999063;MT-ND1:MT-ND3:5ldx:H:A:N126K:S45A:0.98402:0.152239606:0.531179786;MT-ND1:MT-ND3:5ldx:H:A:N126K:S45P:0.51943:0.152239606:0.854759216;MT-ND1:MT-ND3:5ldx:H:A:N126K:S45T:0.06326:0.152239606:0.424250036;MT-ND1:MT-ND3:5ldx:H:A:N126K:S45C:0.82719:0.152239606:0.429790109;MT-ND1:MT-ND3:5ldx:H:A:N126K:S45Y:1.06765:0.152239606:0.507420719
For more info, please check the output legend.
ΔΔG values >±0.61 Kcal/mol are indicative of disrupting variants.
ΔΔG values close to zero (<±0.1 Kcal/mol) are indicative of possibly
compensating double mutants.
For more info, please check the output legend.
ΔΔG values >±0.61 Kcal/mol are indicative of disrupting variants.
ΔΔG values close to zero (<±0.1 Kcal/mol) are indicative of possibly
compensating double mutants.
For more info, please check the output legend.
ΔΔG values >±0.61 Kcal/mol are indicative of disrupting variants.
ΔΔG values close to zero (<±0.1 Kcal/mol) are indicative of possibly
compensating double mutants.
For more info, please check the output legend.
For more info, please check the output legend.
Score:  
0
  [min -20, max 10]
  • Predicted accelerated evolution:  score <= 0
  • Conserved:  score > 0
Score:  
0
  [min 0, max 1]
  • Non-conserved:  score <= 0.7
  • Conserved:  score > 0.7 (soft threshold)
Score:  
0
  [min 0, max 1]
  • Neutral:  score <= 0.15
  • Possibly damaging:  0.15 < score <= 0.85
  • Probably damaging:  score > 0.85
Score:  
0
  [min 0, max 1]
  • Neutral:  score > 0.05
  • Deleterious:  score <= 0.05
Score:  
0
  [min 0, max 1]
  • Neutral:  score > 0.05
  • Deleterious:  score <= 0.05
Score:  
0
  [min -15, max 10]
  • Neutral:  score > -3
  • Deleterious:  score <= -3
Score:  
0
  [min -3, max 6]
  • Neutral:  score > -1.5
  • Deleterious:  score <= -1.5
Score:  
0
  [min -14, max 14]
  • Neutral:  score > -2.5
  • Deleterious:  score <= -2.5 (soft threshold)
Score:  
0
  [min -6, max 6]
  • Neutral:  score <= 0.8
  • Low impact:  0.8 < score <= 1.9
  • Medium impact:  1.9 < score <= 3.5
  • High impact:  score > 3.5
Score:  
0
  [min 0, max 1]
  • Neutral:  score > 0.6
  • Damaging:  score <= 0.6
Score:  
0
  [min 0, max 1]
  • Neutral:  score > 0.28
  • Damaging:  score <= 0.28
Phred score:  
0
  [min 0, max 35]
  • Neutral:  score < 20 (soft threshold)
  • Deleterious:  score >= 20
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Disease:  score >= 0.5
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Disease:  score >= 0.5
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Disease:  score >= 0.5
Score:  
0
  [min 0, max 1]
  • Polymorphism:  score < 0.5
  • Disease causing:  score >= 0.5
P-value:  
0
  [min 0, max 1]
  • Neutral:  p-value > 0.05
  • Pathogenic:  p-value <= 0.05
Score:  
0
  [min 0, max 1]
No hard-thresholds were indicated by authors (ref). Indicatively:
  • Neutral:  score < 0.9
  • Pathogenic:  score >= 0.9
No score. Categorical only
Please refer to Additional File 14: Table S10 for further details.
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.98
  • Deleterious:  score >= 0.98
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Disease:  score >= 0.5
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Deleterious:  score >= 0.5
Score:  
0
  [min -6, max 6]
  • Neutral:  score < 0
  • Deleterious:  score > 0
  • Inaccurate prediction:  score = 0
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Deleterious:  score >= 0.5
DS score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.43
  • Deleterious:  score >= 0.43
Pathogenicity score:  
0
  [min 0, max 1]
  • Neutral:  score ≤ 0.5
  • Pathogenic:  score > 0.5


Pathogenicity score for this variant:  
0
  [min 0, max 1]
ACMG-AMP curations for mitochondrial variants should use the raw scores. Standalone probabilities are shown below:
  • Benign:  score ≤ 0.062 (prob. ≤ 0.001)
  • Likely-benign:  0.062 < score ≤ 0.265 (0.001 < prob. ≤ 0.1)
  • Low-scoring VUS (VUS-):  0.265 < score ≤ 0.396 (0.1 < prob. ≤ 0.33)
  • VUS:  0.396 < score ≤ 0.544 (0.33 < prob. ≤ 0.66)
  • High-scoring VUS (VUS+):  0.544 < score < 0.716 (0.66 < prob. < 0.9)
  • Likely-pathogenic:  0.716 ≤ score < 0.907 (0.9 ≤ prob. < 0.99)
  • Pathogenic:  score ≥ 0.907 (prob. ≥ 0.99)
Score:  
0
  [min -5, max 5]
  • Low impact:  score <= -1 (soft threshold)
  • Medium impact:  -1 < score < 1.5 (soft threshold)
  • High impact:  score >= 1.5 (soft threshold)
Score:  
0
  [min -5, max 5]
  • Low impact:  score <= -1
  • Medium impact:  -1 < score < 2 (soft threshold)
  • High impact:  score >= 2 (soft threshold)
Score:  
0
  [min -5, max 5]
  • Low impact:  score <= -1
  • Medium impact:  -1 < score < 2 (soft threshold)
  • High impact:  score >= 2 (soft threshold)
P-value:  
0
  [min 0, max 1]
  • Neutral:  FDR > 0.2
  • Driver:  FDR <= 0.2
The frequency of a CPD variant is proportional to the
number of aligned orthologous sequences that
carry a specific human pathogenic variant as
wild-type amino acid on the total number of aligned
sequences.

For more info, please check the output legend