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
-1.62 Conservation Score
PhastCons 100v
0 Conservation Score

Pathogenicity predictors

PolyPhen2
Possibly damaging Score and details of the predictor
SIFT
Neutral 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

APOGEE
Neutral 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
. 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 March2020 ClinSig
.
ClinVar March2020 ClnDBN
.
ClinVar March2020 ClnAllele ID
.
ClinVar March2020 ClnDSDB
.
MITOMAP Allele
.
MITOMAP Phenotype
.
MITOMAP Homoplasmy
.
MITOMAP Heteroplasmy
.
MITOMAP Status
.
MITOMAP NRef
.
COSMIC 90
.
dbSNP 153

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)

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
-1.62 Conservation Score
PhastCons 100v
0 Conservation Score

Pathogenicity predictors

PolyPhen2
Probably damaging Score and details of the predictor
SIFT
Neutral 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

APOGEE
Neutral 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 March2020 ClinSig
.
ClinVar March2020 ClnDBN
.
ClinVar March2020 ClnAllele ID
.
ClinVar March2020 ClnDSDB
.
MITOMAP Allele
.
MITOMAP Phenotype
.
MITOMAP Homoplasmy
.
MITOMAP Heteroplasmy
.
MITOMAP Status
.
MITOMAP NRef
.
COSMIC 90
.
dbSNP 153

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
-1.62 Conservation Score
PhastCons 100v
0 Conservation Score

Pathogenicity predictors

PolyPhen2
Probably damaging Score and details of the predictor
SIFT
Neutral 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

APOGEE
Neutral 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 March2020 ClinSig
.
ClinVar March2020 ClnDBN
.
ClinVar March2020 ClnAllele ID
.
ClinVar March2020 ClnDSDB
.
MITOMAP Allele
.
MITOMAP Phenotype
.
MITOMAP Homoplasmy
.
MITOMAP Heteroplasmy
.
MITOMAP Status
.
MITOMAP NRef
.
COSMIC 90
.
dbSNP 153

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
8.49 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
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

APOGEE
Neutral 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 March2020 ClinSig
.
ClinVar March2020 ClnDBN
.
ClinVar March2020 ClnAllele ID
.
ClinVar March2020 ClnDSDB
.
MITOMAP Allele
.
MITOMAP Phenotype
.
MITOMAP Homoplasmy
.
MITOMAP Heteroplasmy
.
MITOMAP Status
.
MITOMAP NRef
.
COSMIC 90
.
dbSNP 153

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
8.49 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
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

APOGEE
Pathogenic 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 March2020 ClinSig
.
ClinVar March2020 ClnDBN
.
ClinVar March2020 ClnAllele ID
.
ClinVar March2020 ClnDSDB
.
MITOMAP Allele
.
MITOMAP Phenotype
.
MITOMAP Homoplasmy
.
MITOMAP Heteroplasmy
.
MITOMAP Status
.
MITOMAP NRef
.
COSMIC 90
.
dbSNP 153

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
8.49 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
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

APOGEE
Pathogenic 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
. 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 March2020 ClinSig
.
ClinVar March2020 ClnDBN
.
ClinVar March2020 ClnAllele ID
.
ClinVar March2020 ClnDSDB
.
MITOMAP Allele
.
MITOMAP Phenotype
.
MITOMAP Homoplasmy
.
MITOMAP Heteroplasmy
.
MITOMAP Status
.
MITOMAP NRef
.
COSMIC 90
.
dbSNP 153

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
6.65 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
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

APOGEE
Pathogenic 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 March2020 ClinSig
.
ClinVar March2020 ClnDBN
.
ClinVar March2020 ClnAllele ID
.
ClinVar March2020 ClnDSDB
.
MITOMAP Allele
.
MITOMAP Phenotype
.
MITOMAP Homoplasmy
.
MITOMAP Heteroplasmy
.
MITOMAP Status
.
MITOMAP NRef
.
COSMIC 90
.
dbSNP 153

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
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
6.65 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
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

APOGEE
Pathogenic 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 March2020 ClinSig
.
ClinVar March2020 ClnDBN
.
ClinVar March2020 ClnAllele ID
.
ClinVar March2020 ClnDSDB
.
MITOMAP Allele
.
MITOMAP Phenotype
.
MITOMAP Homoplasmy
.
MITOMAP Heteroplasmy
.
MITOMAP Status
.
MITOMAP NRef
.
COSMIC 90
.
dbSNP 153

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) 3682 (A/T) 3682 (A/C) 3683 (A/T) 3683 (A/G) 3683 (A/C) 3684 (C/G) 3684 (C/A)
~ 3682 (Aac/Gac) 3682 (Aac/Tac) 3682 (Aac/Cac) 3683 (aAc/aTc) 3683 (aAc/aGc) 3683 (aAc/aCc) 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 G T C T G C G A
MitImpact id MI.11533 MI.11534 MI.11535 MI.11536 MI.11537 MI.11538 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 D Y H I S T K K
Codon substitution Aac/Gac Aac/Tac Aac/Cac aAc/aTc aAc/aGc aAc/aCc aaC/aaG aaC/aaA
PhyloP 100V -1.62 -1.62 -1.62 8.49 8.49 8.49 6.65 6.65
PhastCons 100V 0 0 0 1 1 1 1 1
PolyPhen2 possibly_damaging probably_damaging probably_damaging probably_damaging possibly_damaging possibly_damaging benign benign
PolyPhen2 score 0.72 0.96 0.95 0.95 0.53 0.72 0.03 0.03
SIFT neutral neutral neutral neutral neutral neutral neutral neutral
SIFT score 0.2 1 0.52 0.4 0.64 0.38 0.37 0.37
FatHmm neutral deleterious neutral neutral neutral neutral neutral neutral
FatHmm score -1 -3.02 -2.13 -2.63 -0.97 -1.35 2.2 2.2
FatHmmW neutral neutral neutral neutral neutral neutral neutral neutral
FatHmmW score 2.74 2.68 2.7 2.69 2.74 2.72 3.23 3.23
PROVEAN neutral neutral neutral deleterious neutral neutral neutral neutral
PROVEAN score -1.03 -1.98 -1.04 -2.91 -0.15 -1.05 4.14 4.14
MutationAssessor medium impact medium impact medium impact low impact low impact medium impact neutral impact neutral impact
MutationAssessor score 2.94 2.04 2.59 1.47 1.24 2.24 -1.8 -1.8
EFIN SP neutral neutral neutral neutral neutral neutral neutral neutral
EFIN SP score 0.66 0.68 0.64 0.67 0.78 0.63 0.7 0.7
EFIN HD damaging neutral neutral neutral neutral neutral neutral neutral
EFIN HD score 0.25 0.3 0.28 0.28 0.28 0.3 0.81 0.81
CADD deleterious deleterious deleterious deleterious deleterious deleterious neutral neutral
CADD score 3.84 3.75 3.08 3.75 2.94 3.26 1.27 1.69
CADD phred 23.4 23.3 22.5 23.3 22 22.8 12.09 14.36
VEST pvalue 0.64 0.08 0.4 0.12 0.55 0.38 0.49 0.49
VEST FDR 0.7 0.35 0.5 0.4 0.6 0.5 0.55 0.55
PANTHER neutral neutral neutral neutral neutral neutral neutral neutral
PANTHER score 0.22 0.44 0.34 0.37 0.14 0.18 0.23 0.23
PhD-SNP disease disease neutral disease neutral neutral neutral neutral
PhD-SNP score 0.61 0.7 0.47 0.78 0.48 0.49 0.05 0.05
SNAP disease disease disease disease neutral disease neutral neutral
SNAP score 0.62 0.62 0.63 0.58 0.49 0.57 0.26 0.26
Meta-SNP disease disease disease disease neutral disease neutral neutral
Meta-SNP score 0.7 0.7 0.53 0.72 0.43 0.56 0.18 0.18
Meta-SNP RI 4 4 1 4 1 1 6 6
CAROL neutral neutral neutral neutral neutral neutral neutral neutral
CAROL score 0.85 0.96 0.94 0.95 0.45 0.74 0.61 0.61
Condel neutral deleterious neutral neutral deleterious neutral deleterious deleterious
Condel score 0.24 0.52 0.29 0.23 0.56 0.33 0.67 0.67
COVEC WMV . deleterious deleterious neutral neutral . neutral neutral
COVEC WMV score 0 1 1 -2 -3 0 -6 -6
MtoolBox deleterious deleterious deleterious deleterious deleterious deleterious neutral neutral
MtoolBox DS 0.57 0.75 0.68 0.75 0.44 0.54 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 -1.14 -2.05 -1.95 -1.95 -0.8 -1.14 0.67 0.67
SIFT_transf medium impact high impact medium impact medium impact medium impact medium impact medium impact medium impact
SIFT transf score -0.06 1.96 0.29 0.18 0.42 0.16 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 1.38 0.59 1.07 0.1 -0.11 0.77 -2.76 -2.76
CHASM pvalue 0.29 0.17 0.14 0.14 0.15 0.2 0.41 0.41
CHASM FDR 0.8 0.8 0.8 0.8 0.8 0.8 0.8 0.8
APOGEE Neutral Neutral Neutral Neutral Pathogenic Pathogenic Pathogenic Pathogenic
APOGEE score 0.42 0.23 0.34 0.5 0.53 0.67 0.62 0.63
SNPDryad score 0.68 0.93 0.38 0.92 0.31 0.43 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 0.12 0.05 0.05 0.11 0.01 0.03 0.01 0.01
Mitoclass.1 neutral neutral neutral neutral neutral neutral neutral neutral
dbSNP 153 id . . . . . . . .
ClinVar March2020 ClinSig . . . . . . . .
ClinVar March2020 ClnDBN . . . . . . . .
ClinVar March2020 ClnAllele id . . . . . . . .
ClinVar March2020 ClnDSDB . . . . . . . .
COSMIC 90 . . . . . . . .
CPD Frequency . . . . . . . .
MITOMAP Allele . . . . . . . .
MITOMAP Phenotype . . . . . . . .
MITOMAP Homoplasmy . . . . . . . .
MITOMAP Heteroplasmy . . . . . . . .
MITOMAP Status . . . . . . . .
MITOMAP NRef . . . . . . . .
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 Species name . . . . . . . .
CPD RefSeq Protein ID . . . . . . . .
CPD Ncbi Taxon id . . . . . . . .
DDG intra 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: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: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: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: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: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 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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
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 <= 0.9
  • Conserved:  score > 0.9 (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 -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
Score:  
0
  [min 0, max 1]
  • Neutral:  score <= 0.5
  • Pathogenic:  score > 0.5
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