General info

Chr
chrM
Start
10191
End
10191
Ref
T
Alt
C
Mitimpact ID
MI.15248
Gene symbol
MT-ND3
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
133
AA pos
45
AA ref
S
AA alt
P
Codon substitution
Tcc/Ccc
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Powered by MitoWheel

Conservation

PhyloP 100v
3.09818 Conservation Score
PhastCons 100v
0.992126 Conservation Score

Pathogenicity predictors

PolyPhen2
Benign 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
Medium impact Score and details of the predictor
EFIN SP
Damaging 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
Disease causing automatic 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
Likely-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
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
Deleterious 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
Leigh disease / leigh-like disease / esoc
MITOMAP Disease Status
Cfrm [p]
MITOMAP Disease GenBank Freq
0.000%(0.000%)
MITOMAP Disease GenBank Seqs
0 (0)
MITOMAP Disease GenBank Curated refs
31
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
Gnomad31 filter
Npg
Gnomad31 AC hom
0
Gnomad31 AC het
0
Gnomad31 AF hom
0
Gnomad31 AF het
0
Gnomad31 AN
56433
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
10191
End
10191
Ref
T
Alt
G
Mitimpact ID
MI.15246
Gene symbol
MT-ND3
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
133
AA pos
45
AA ref
S
AA alt
A
Codon substitution
Tcc/Gcc
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
3.09818 Conservation Score
PhastCons 100v
0.992126 Conservation Score

Pathogenicity predictors

PolyPhen2
Benign 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
Neutral 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
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
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
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
0
MITOMAP General GenBank Seqs
0
MITOMAP General GenBank Curated refs
1
Gnomad31 filter
Pass
Gnomad31 AC hom
2
Gnomad31 AC het
0
Gnomad31 AF hom
0.00003543963
Gnomad31 AF het
0
Gnomad31 AN
56434
HelixMTdb AC hom
2.0
HelixMTdb AF hom
1.0204967e-05
HelixMTdb AC het
0.0
HelixMTdb AF het
0.0
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
10191
End
10191
Ref
T
Alt
A
Mitimpact ID
MI.15247
Gene symbol
MT-ND3
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
133
AA pos
45
AA ref
S
AA alt
T
Codon substitution
Tcc/Acc
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
3.09818 Conservation Score
PhastCons 100v
0.992126 Conservation Score

Pathogenicity predictors

PolyPhen2
Benign 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
Damaging 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
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
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
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
1
Gnomad31 AC het
0
Gnomad31 AF hom
0.000017719814
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
.

General info

Chr
chrM
Start
10192
End
10192
Ref
C
Alt
A
Mitimpact ID
MI.15250
Gene symbol
MT-ND3
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
134
AA pos
45
AA ref
S
AA alt
Y
Codon substitution
tCc/tAc
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
2.63155 Conservation Score
PhastCons 100v
0.992126 Conservation Score

Pathogenicity predictors

PolyPhen2
Benign 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
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
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
Disease Score and details of the meta-predictor
MtoolBox
Neutral Score and details of the meta-predictor
DEOGEN2
Deleterious 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
0.00007
MITOMAP General GenBank Seqs
4
MITOMAP General GenBank Curated refs
1
Gnomad31 filter
Pass
Gnomad31 AC hom
12
Gnomad31 AC het
0
Gnomad31 AF hom
0.00021263777
Gnomad31 AF het
0
Gnomad31 AN
56434
HelixMTdb AC hom
16.0
HelixMTdb AF hom
8.163974e-05
HelixMTdb AC het
0.0
HelixMTdb AF het
0.0
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
10192
End
10192
Ref
C
Alt
T
Mitimpact ID
MI.15251
Gene symbol
MT-ND3
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
134
AA pos
45
AA ref
S
AA alt
F
Codon substitution
tCc/tTc
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
2.63155 Conservation Score
PhastCons 100v
0.992126 Conservation Score

Pathogenicity predictors

PolyPhen2
Benign 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
Deleterious 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
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
Deleterious 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
Neutral Score and details of the meta-predictor
DEOGEN2
Deleterious 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
0.00173
MITOMAP General GenBank Seqs
103
MITOMAP General GenBank Curated refs
9
Gnomad31 filter
Pass
Gnomad31 AC hom
81
Gnomad31 AC het
2
Gnomad31 AF hom
0.0014354321
Gnomad31 AF het
0.00003544277
Gnomad31 AN
56429
HelixMTdb AC hom
318.0
HelixMTdb AF hom
0.0016225898
HelixMTdb AC het
5.0
HelixMTdb AF het
2.5512418e-05
HelixMTdb mean ARF
0.43853
HelixMTdb max ARF
0.88235
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
10192
End
10192
Ref
C
Alt
G
Mitimpact ID
MI.15249
Gene symbol
MT-ND3
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
134
AA pos
45
AA ref
S
AA alt
C
Codon substitution
tCc/tGc
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
2.63155 Conservation Score
PhastCons 100v
0.992126 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
Deleterious Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Deleterious 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
Disease 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
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
Deleterious 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
.
~ 10191 (T/C) 10191 (T/G) 10191 (T/A) 10192 (C/A) 10192 (C/T) 10192 (C/G)
~ 10191 (Tcc/Ccc) 10191 (Tcc/Gcc) 10191 (Tcc/Acc) 10192 (tCc/tAc) 10192 (tCc/tTc) 10192 (tCc/tGc)
Chr chrM chrM chrM chrM chrM chrM
Start 10191 10191 10191 10192 10192 10192
End 10191 10191 10191 10192 10192 10192
Ref T T T C C C
Alt C G A A T G
MitImpact id MI.15248 MI.15246 MI.15247 MI.15250 MI.15251 MI.15249
Gene symbol MT-ND3 MT-ND3 MT-ND3 MT-ND3 MT-ND3 MT-ND3
Respiratory Chain complex I I I I I I
Ensembl gene id ENSG00000198840 ENSG00000198840 ENSG00000198840 ENSG00000198840 ENSG00000198840 ENSG00000198840
Ensembl protein id ENSP00000355206 ENSP00000355206 ENSP00000355206 ENSP00000355206 ENSP00000355206 ENSP00000355206
Ensembl transcript id ENST00000361227 ENST00000361227 ENST00000361227 ENST00000361227 ENST00000361227 ENST00000361227
Uniprot name NU3M_HUMAN NU3M_HUMAN NU3M_HUMAN NU3M_HUMAN NU3M_HUMAN NU3M_HUMAN
Uniprot id P03897 P03897 P03897 P03897 P03897 P03897
Ncbi gene id 4537 4537 4537 4537 4537 4537
Ncbi protein id YP_003024033.1 YP_003024033.1 YP_003024033.1 YP_003024033.1 YP_003024033.1 YP_003024033.1
Gene position 133 133 133 134 134 134
AA position 45 45 45 45 45 45
AA ref S S S S S S
AA alt P A T Y F C
Codon substitution Tcc/Ccc Tcc/Gcc Tcc/Acc tCc/tAc tCc/tTc tCc/tGc
PhyloP 100V 3.09818 3.09818 3.09818 2.63155 2.63155 2.63155
PhastCons 100V 0.992126 0.992126 0.992126 0.992126 0.992126 0.992126
PolyPhen2 benign benign benign benign benign possibly_damaging
PolyPhen2 score 0.43 0.09 0.09 0.0 0.0 0.71
SIFT neutral neutral neutral neutral neutral neutral
SIFT score 0.3 0.79 0.6 0.17 0.14 0.08
SIFT4G Damaging Damaging Damaging Damaging Damaging Damaging
SIFT4G score 0.001 0.012 0.029 0.005 0 0
FatHmm neutral neutral neutral neutral deleterious deleterious
FatHmm score -1.41 -0.27 -0.75 -2.73 -3.14 -4.12
FatHmmW neutral neutral neutral neutral neutral neutral
FatHmmW score 0.85 0.91 0.9 0.84 0.84 0.82
PROVEAN deleterious neutral neutral deleterious deleterious deleterious
PROVEAN score -2.51 -0.84 -1.76 -3.39 -3.55 -3.36
MutationAssessor medium impact medium impact medium impact medium impact medium impact medium impact
MutationAssessor score 2.88 2.38 2.13 2.54 2.6 3.23
EFIN SP damaging neutral damaging neutral neutral neutral
EFIN SP score 0.17 0.76 0.6 0.7 0.62 0.69
EFIN HD neutral neutral neutral neutral neutral neutral
EFIN HD score 0.35 0.81 0.65 0.58 0.54 0.43
CADD deleterious neutral deleterious deleterious deleterious deleterious
CADD score 2.31 1.74 1.82 2.2 2.24 3.22
CADD phred 18.21 14.63 15.08 17.48 17.75 22.7
VEST pvalue 0.12 0.3 0.33 0.09 0.11 0.11
VEST FDR 0.4 0.45 0.5 0.35 0.4 0.4
PANTHER neutral neutral neutral neutral neutral disease
PANTHER score 0.44 0.21 0.25 0.43 0.44 0.63
PhD-SNP disease neutral neutral disease disease disease
PhD-SNP score 0.76 0.31 0.35 0.59 0.65 0.6
SNAP disease disease disease disease disease disease
SNAP score 0.6 0.56 0.6 0.64 0.62 0.54
Meta-SNP disease neutral neutral disease disease disease
Meta-SNP score 0.69 0.4 0.42 0.69 0.7 0.66
Meta-SNP RI 4 2 2 4 4 3
CAROL neutral neutral neutral neutral neutral neutral
CAROL score 0.66 0.11 0.31 0.83 0.86 0.93
Condel neutral deleterious deleterious deleterious deleterious neutral
Condel score 0.44 0.85 0.76 0.59 0.57 0.19
COVEC WMV neutral neutral neutral neutral neutral .
COVEC WMV score -3 -3 -3 -3 -3 0
MtoolBox deleterious neutral neutral neutral neutral deleterious
MtoolBox DS 0.57 0.15 0.16 0.19 0.21 0.62
PolyPhen2 transf medium impact medium impact medium impact medium impact medium impact low impact
PolyPhen2 transf score -0.61 0.19 0.19 1.99 1.99 -1.07
SIFT_transf medium impact medium impact medium impact medium impact medium impact medium impact
SIFT transf score -0.01 0.51 0.29 -0.19 -0.25 -0.4
MutationAssessor transf medium impact medium impact medium impact medium impact medium impact medium impact
MutationAssessor transf score 1.53 1.07 0.84 1.22 1.28 1.85
CHASM pvalue 0.22 0.35 0.48 0.2 0.09 0.27
CHASM FDR 0.8 0.8 0.8 0.8 0.8 0.8
APOGEE1 Pathogenic Neutral Neutral Pathogenic Pathogenic Pathogenic
APOGEE1 score 0.95 0.35 0.4 0.53 0.55 0.6
APOGEE2 Likely-pathogenic Likely-benign Likely-benign Likely-benign VUS- VUS+
APOGEE2 score 0.885009891987772 0.123940852115962 0.207107797390288 0.261702983318272 0.315129251318063 0.596918866941625
SNPDryad score 0.6 0.1 0.13 0.06 0.54 0.56
MutationTaster disease_causing_automatic polymorphism polymorphism polymorphism polymorphism polymorphism
MutationTaster score 0 1 1 1 1 1
DEOGEN2 score 0.55 0.33 0.37 0.56 0.63 0.68
Mitoclass.1 neutral neutral neutral neutral neutral neutral
dbSNP 155 id rs267606890 . . rs1556423776 rs1556423776 .
ClinVar July2022 Variation id . . . . . .
ClinVar July2022 CLNSIG . . . . . .
ClinVar July2022 CLNDN . . . . . .
ClinVar July2022 CLNDISDB . . . . . .
COSMIC 90 . . . . . .
MITOMAP Allele T10191C . . . . .
MITOMAP Disease Het/Hom -/+ . . . . .
MITOMAP Disease Clinical info Leigh Disease / Leigh-like Disease / ESOC . . . . .
MITOMAP Disease Status Cfrm [P] . . . . .
MITOMAP Disease GenBank Freq 0.000%(0.000%) . . . . .
MITOMAP Disease GenBank Seqs 0 (0) . . . . .
MITOMAP Disease GenBank Curated refs 31 . . . . .
MITOMAP General GenBank Freq . 0 . 0.00007 0.00173 .
MITOMAP General GenBank Seqs . 0 . 4 103 .
MITOMAP General Curated refs . 1 . 1 9 .
gnomAD 3.1 filter npg PASS PASS PASS PASS .
gnomAD 3.1 AC Homo 0 2 1 12 81 .
gnomAD 3.1 AC Het 0 0 0 0 2 .
gnomAD 3.1 AF Hom 0 0.00003543963 0.000017719814 0.00021263777 0.0014354321 .
gnomAD 3.1 AF Het 0 0 0 0 0.00003544277 .
gnomAD 3.1 AN 56433 56434 56434 56434 56429 .
HelixMTdb AC Hom . 2.0 . 16.0 318.0 .
HelixMTdb AF Hom . 1.0204967e-05 . 8.163974e-05 0.0016225898 .
HelixMTdb AC Het . 0.0 . 0.0 5.0 .
HelixMTdb AF Het . 0.0 . 0.0 2.5512418e-05 .
HelixMTdb mean ARF . . . . 0.43853 .
HelixMTdb max ARF . . . . 0.88235 .
EVmutation MT-ND3_45S|47A:0.28422;53M:0.197548;77W:0.189385;67L:0.153054;46P:0.148367;63L:0.140246;49V:0.127445;70A:0.110601;69I:0.089183;99A:0.088252;106W:0.080069;83N:0.078717;89M:0.071885;97I:0.069759 MT-ND3_45S|47A:0.28422;53M:0.197548;77W:0.189385;67L:0.153054;46P:0.148367;63L:0.140246;49V:0.127445;70A:0.110601;69I:0.089183;99A:0.088252;106W:0.080069;83N:0.078717;89M:0.071885;97I:0.069759 MT-ND3_45S|47A:0.28422;53M:0.197548;77W:0.189385;67L:0.153054;46P:0.148367;63L:0.140246;49V:0.127445;70A:0.110601;69I:0.089183;99A:0.088252;106W:0.080069;83N:0.078717;89M:0.071885;97I:0.069759 MT-ND3_45S|47A:0.28422;53M:0.197548;77W:0.189385;67L:0.153054;46P:0.148367;63L:0.140246;49V:0.127445;70A:0.110601;69I:0.089183;99A:0.088252;106W:0.080069;83N:0.078717;89M:0.071885;97I:0.069759 MT-ND3_45S|47A:0.28422;53M:0.197548;77W:0.189385;67L:0.153054;46P:0.148367;63L:0.140246;49V:0.127445;70A:0.110601;69I:0.089183;99A:0.088252;106W:0.080069;83N:0.078717;89M:0.071885;97I:0.069759 MT-ND3_45S|47A:0.28422;53M:0.197548;77W:0.189385;67L:0.153054;46P:0.148367;63L:0.140246;49V:0.127445;70A:0.110601;69I:0.089183;99A:0.088252;106W:0.080069;83N:0.078717;89M:0.071885;97I:0.069759
Site A InterP ND3_45 ND3_45 ND3_45 ND3_45 ND3_45 ND3_45
Site B InterP ND1_231;ND1_128;ND1_46;ND1_156;ND2_4;ND2_60;ND4_198;ND4_202;ND4_416;ND4L_57;ND4L_67;ND4L_27;ND5_497;ND5_414;ND1_248;ND1_67;ND1_126;ND1_71;ND1_93;ND1_76;ND1_27;ND1_84;ND1_276;ND1_249;ND1_163;ND1_229;ND1_85;ND1_62;ND1_301;ND1_64;ND1_251;ND1_79;ND2_166;ND2_6;ND2_89;ND2_265;ND2_241;ND2_239;ND2_276;ND2_78;ND2_10;ND2_76;ND2_94;ND4_442;ND4_411;ND4_49;ND4_248;ND4_38;ND4_4;ND4_438;ND4_426;ND4_85;ND4_56;ND4_140;ND4_27;ND4_54;ND4_99;ND4_444;ND4L_80;ND4L_54;ND4L_48;ND4L_91;ND4L_58;ND4L_57;ND4L_28;ND4L_38;ND5_193;ND5_572;ND5_480;ND5_202;ND5_160;ND5_518;ND5_428;ND5_41;ND5_75;ND5_420;ND5_492;ND5_583;ND5_169;ND5_426;ND6_41;ND6_17;ND6_87;ND6_135;ND6_21;ND6_86;ND6_5 ND1_231;ND1_128;ND1_46;ND1_156;ND2_4;ND2_60;ND4_198;ND4_202;ND4_416;ND4L_57;ND4L_67;ND4L_27;ND5_497;ND5_414;ND1_248;ND1_67;ND1_126;ND1_71;ND1_93;ND1_76;ND1_27;ND1_84;ND1_276;ND1_249;ND1_163;ND1_229;ND1_85;ND1_62;ND1_301;ND1_64;ND1_251;ND1_79;ND2_166;ND2_6;ND2_89;ND2_265;ND2_241;ND2_239;ND2_276;ND2_78;ND2_10;ND2_76;ND2_94;ND4_442;ND4_411;ND4_49;ND4_248;ND4_38;ND4_4;ND4_438;ND4_426;ND4_85;ND4_56;ND4_140;ND4_27;ND4_54;ND4_99;ND4_444;ND4L_80;ND4L_54;ND4L_48;ND4L_91;ND4L_58;ND4L_57;ND4L_28;ND4L_38;ND5_193;ND5_572;ND5_480;ND5_202;ND5_160;ND5_518;ND5_428;ND5_41;ND5_75;ND5_420;ND5_492;ND5_583;ND5_169;ND5_426;ND6_41;ND6_17;ND6_87;ND6_135;ND6_21;ND6_86;ND6_5 ND1_231;ND1_128;ND1_46;ND1_156;ND2_4;ND2_60;ND4_198;ND4_202;ND4_416;ND4L_57;ND4L_67;ND4L_27;ND5_497;ND5_414;ND1_248;ND1_67;ND1_126;ND1_71;ND1_93;ND1_76;ND1_27;ND1_84;ND1_276;ND1_249;ND1_163;ND1_229;ND1_85;ND1_62;ND1_301;ND1_64;ND1_251;ND1_79;ND2_166;ND2_6;ND2_89;ND2_265;ND2_241;ND2_239;ND2_276;ND2_78;ND2_10;ND2_76;ND2_94;ND4_442;ND4_411;ND4_49;ND4_248;ND4_38;ND4_4;ND4_438;ND4_426;ND4_85;ND4_56;ND4_140;ND4_27;ND4_54;ND4_99;ND4_444;ND4L_80;ND4L_54;ND4L_48;ND4L_91;ND4L_58;ND4L_57;ND4L_28;ND4L_38;ND5_193;ND5_572;ND5_480;ND5_202;ND5_160;ND5_518;ND5_428;ND5_41;ND5_75;ND5_420;ND5_492;ND5_583;ND5_169;ND5_426;ND6_41;ND6_17;ND6_87;ND6_135;ND6_21;ND6_86;ND6_5 ND1_231;ND1_128;ND1_46;ND1_156;ND2_4;ND2_60;ND4_198;ND4_202;ND4_416;ND4L_57;ND4L_67;ND4L_27;ND5_497;ND5_414;ND1_248;ND1_67;ND1_126;ND1_71;ND1_93;ND1_76;ND1_27;ND1_84;ND1_276;ND1_249;ND1_163;ND1_229;ND1_85;ND1_62;ND1_301;ND1_64;ND1_251;ND1_79;ND2_166;ND2_6;ND2_89;ND2_265;ND2_241;ND2_239;ND2_276;ND2_78;ND2_10;ND2_76;ND2_94;ND4_442;ND4_411;ND4_49;ND4_248;ND4_38;ND4_4;ND4_438;ND4_426;ND4_85;ND4_56;ND4_140;ND4_27;ND4_54;ND4_99;ND4_444;ND4L_80;ND4L_54;ND4L_48;ND4L_91;ND4L_58;ND4L_57;ND4L_28;ND4L_38;ND5_193;ND5_572;ND5_480;ND5_202;ND5_160;ND5_518;ND5_428;ND5_41;ND5_75;ND5_420;ND5_492;ND5_583;ND5_169;ND5_426;ND6_41;ND6_17;ND6_87;ND6_135;ND6_21;ND6_86;ND6_5 ND1_231;ND1_128;ND1_46;ND1_156;ND2_4;ND2_60;ND4_198;ND4_202;ND4_416;ND4L_57;ND4L_67;ND4L_27;ND5_497;ND5_414;ND1_248;ND1_67;ND1_126;ND1_71;ND1_93;ND1_76;ND1_27;ND1_84;ND1_276;ND1_249;ND1_163;ND1_229;ND1_85;ND1_62;ND1_301;ND1_64;ND1_251;ND1_79;ND2_166;ND2_6;ND2_89;ND2_265;ND2_241;ND2_239;ND2_276;ND2_78;ND2_10;ND2_76;ND2_94;ND4_442;ND4_411;ND4_49;ND4_248;ND4_38;ND4_4;ND4_438;ND4_426;ND4_85;ND4_56;ND4_140;ND4_27;ND4_54;ND4_99;ND4_444;ND4L_80;ND4L_54;ND4L_48;ND4L_91;ND4L_58;ND4L_57;ND4L_28;ND4L_38;ND5_193;ND5_572;ND5_480;ND5_202;ND5_160;ND5_518;ND5_428;ND5_41;ND5_75;ND5_420;ND5_492;ND5_583;ND5_169;ND5_426;ND6_41;ND6_17;ND6_87;ND6_135;ND6_21;ND6_86;ND6_5 ND1_231;ND1_128;ND1_46;ND1_156;ND2_4;ND2_60;ND4_198;ND4_202;ND4_416;ND4L_57;ND4L_67;ND4L_27;ND5_497;ND5_414;ND1_248;ND1_67;ND1_126;ND1_71;ND1_93;ND1_76;ND1_27;ND1_84;ND1_276;ND1_249;ND1_163;ND1_229;ND1_85;ND1_62;ND1_301;ND1_64;ND1_251;ND1_79;ND2_166;ND2_6;ND2_89;ND2_265;ND2_241;ND2_239;ND2_276;ND2_78;ND2_10;ND2_76;ND2_94;ND4_442;ND4_411;ND4_49;ND4_248;ND4_38;ND4_4;ND4_438;ND4_426;ND4_85;ND4_56;ND4_140;ND4_27;ND4_54;ND4_99;ND4_444;ND4L_80;ND4L_54;ND4L_48;ND4L_91;ND4L_58;ND4L_57;ND4L_28;ND4L_38;ND5_193;ND5_572;ND5_480;ND5_202;ND5_160;ND5_518;ND5_428;ND5_41;ND5_75;ND5_420;ND5_492;ND5_583;ND5_169;ND5_426;ND6_41;ND6_17;ND6_87;ND6_135;ND6_21;ND6_86;ND6_5
Covariation Score InterP mfDCA_43.06;mfDCA_38.66;mfDCA_33.28;mfDCA_32.98;mfDCA_37.45;mfDCA_27.97;mfDCA_37.96;mfDCA_22.41;mfDCA_21.64;cMI_14.42049;mfDCA_34.27;mfDCA_26.86;mfDCA_79.1;mfDCA_31.92;cMI_49.89251;cMI_42.92984;cMI_41.72575;cMI_41.35901;cMI_39.83745;cMI_39.80877;cMI_39.28621;cMI_39.25341;cMI_38.90435;cMI_37.23441;cMI_37.10332;cMI_35.91475;cMI_35.72486;cMI_34.76365;cMI_34.26473;cMI_32.72981;cMI_31.32613;cMI_30.89244;cMI_22.94652;cMI_22.92951;cMI_22.78181;cMI_22.0794;cMI_21.36701;cMI_21.16552;cMI_19.74607;cMI_19.27132;cMI_18.72378;cMI_18.45074;cMI_18.01385;cMI_45.83789;cMI_44.22917;cMI_36.96359;cMI_36.7885;cMI_36.36468;cMI_34.82834;cMI_34.44059;cMI_34.16881;cMI_34.00615;cMI_33.7583;cMI_32.86419;cMI_32.3116;cMI_32.27547;cMI_31.86143;cMI_31.70077;cMI_30.23993;cMI_22.23638;cMI_19.73961;cMI_19.16892;cMI_15.51931;cMI_14.42049;cMI_12.72224;cMI_12.48772;cMI_45.56686;cMI_39.36692;cMI_39.2702;cMI_39.21392;cMI_37.50221;cMI_37.33206;cMI_37.03395;cMI_36.14669;cMI_36.0487;cMI_36.01114;cMI_35.29195;cMI_33.17587;cMI_32.8188;cMI_31.61218;cMI_19.13398;cMI_17.85636;cMI_17.52418;cMI_16.19448;cMI_14.52225;cMI_13.83411;cMI_13.57866 mfDCA_43.06;mfDCA_38.66;mfDCA_33.28;mfDCA_32.98;mfDCA_37.45;mfDCA_27.97;mfDCA_37.96;mfDCA_22.41;mfDCA_21.64;cMI_14.42049;mfDCA_34.27;mfDCA_26.86;mfDCA_79.1;mfDCA_31.92;cMI_49.89251;cMI_42.92984;cMI_41.72575;cMI_41.35901;cMI_39.83745;cMI_39.80877;cMI_39.28621;cMI_39.25341;cMI_38.90435;cMI_37.23441;cMI_37.10332;cMI_35.91475;cMI_35.72486;cMI_34.76365;cMI_34.26473;cMI_32.72981;cMI_31.32613;cMI_30.89244;cMI_22.94652;cMI_22.92951;cMI_22.78181;cMI_22.0794;cMI_21.36701;cMI_21.16552;cMI_19.74607;cMI_19.27132;cMI_18.72378;cMI_18.45074;cMI_18.01385;cMI_45.83789;cMI_44.22917;cMI_36.96359;cMI_36.7885;cMI_36.36468;cMI_34.82834;cMI_34.44059;cMI_34.16881;cMI_34.00615;cMI_33.7583;cMI_32.86419;cMI_32.3116;cMI_32.27547;cMI_31.86143;cMI_31.70077;cMI_30.23993;cMI_22.23638;cMI_19.73961;cMI_19.16892;cMI_15.51931;cMI_14.42049;cMI_12.72224;cMI_12.48772;cMI_45.56686;cMI_39.36692;cMI_39.2702;cMI_39.21392;cMI_37.50221;cMI_37.33206;cMI_37.03395;cMI_36.14669;cMI_36.0487;cMI_36.01114;cMI_35.29195;cMI_33.17587;cMI_32.8188;cMI_31.61218;cMI_19.13398;cMI_17.85636;cMI_17.52418;cMI_16.19448;cMI_14.52225;cMI_13.83411;cMI_13.57866 mfDCA_43.06;mfDCA_38.66;mfDCA_33.28;mfDCA_32.98;mfDCA_37.45;mfDCA_27.97;mfDCA_37.96;mfDCA_22.41;mfDCA_21.64;cMI_14.42049;mfDCA_34.27;mfDCA_26.86;mfDCA_79.1;mfDCA_31.92;cMI_49.89251;cMI_42.92984;cMI_41.72575;cMI_41.35901;cMI_39.83745;cMI_39.80877;cMI_39.28621;cMI_39.25341;cMI_38.90435;cMI_37.23441;cMI_37.10332;cMI_35.91475;cMI_35.72486;cMI_34.76365;cMI_34.26473;cMI_32.72981;cMI_31.32613;cMI_30.89244;cMI_22.94652;cMI_22.92951;cMI_22.78181;cMI_22.0794;cMI_21.36701;cMI_21.16552;cMI_19.74607;cMI_19.27132;cMI_18.72378;cMI_18.45074;cMI_18.01385;cMI_45.83789;cMI_44.22917;cMI_36.96359;cMI_36.7885;cMI_36.36468;cMI_34.82834;cMI_34.44059;cMI_34.16881;cMI_34.00615;cMI_33.7583;cMI_32.86419;cMI_32.3116;cMI_32.27547;cMI_31.86143;cMI_31.70077;cMI_30.23993;cMI_22.23638;cMI_19.73961;cMI_19.16892;cMI_15.51931;cMI_14.42049;cMI_12.72224;cMI_12.48772;cMI_45.56686;cMI_39.36692;cMI_39.2702;cMI_39.21392;cMI_37.50221;cMI_37.33206;cMI_37.03395;cMI_36.14669;cMI_36.0487;cMI_36.01114;cMI_35.29195;cMI_33.17587;cMI_32.8188;cMI_31.61218;cMI_19.13398;cMI_17.85636;cMI_17.52418;cMI_16.19448;cMI_14.52225;cMI_13.83411;cMI_13.57866 mfDCA_43.06;mfDCA_38.66;mfDCA_33.28;mfDCA_32.98;mfDCA_37.45;mfDCA_27.97;mfDCA_37.96;mfDCA_22.41;mfDCA_21.64;cMI_14.42049;mfDCA_34.27;mfDCA_26.86;mfDCA_79.1;mfDCA_31.92;cMI_49.89251;cMI_42.92984;cMI_41.72575;cMI_41.35901;cMI_39.83745;cMI_39.80877;cMI_39.28621;cMI_39.25341;cMI_38.90435;cMI_37.23441;cMI_37.10332;cMI_35.91475;cMI_35.72486;cMI_34.76365;cMI_34.26473;cMI_32.72981;cMI_31.32613;cMI_30.89244;cMI_22.94652;cMI_22.92951;cMI_22.78181;cMI_22.0794;cMI_21.36701;cMI_21.16552;cMI_19.74607;cMI_19.27132;cMI_18.72378;cMI_18.45074;cMI_18.01385;cMI_45.83789;cMI_44.22917;cMI_36.96359;cMI_36.7885;cMI_36.36468;cMI_34.82834;cMI_34.44059;cMI_34.16881;cMI_34.00615;cMI_33.7583;cMI_32.86419;cMI_32.3116;cMI_32.27547;cMI_31.86143;cMI_31.70077;cMI_30.23993;cMI_22.23638;cMI_19.73961;cMI_19.16892;cMI_15.51931;cMI_14.42049;cMI_12.72224;cMI_12.48772;cMI_45.56686;cMI_39.36692;cMI_39.2702;cMI_39.21392;cMI_37.50221;cMI_37.33206;cMI_37.03395;cMI_36.14669;cMI_36.0487;cMI_36.01114;cMI_35.29195;cMI_33.17587;cMI_32.8188;cMI_31.61218;cMI_19.13398;cMI_17.85636;cMI_17.52418;cMI_16.19448;cMI_14.52225;cMI_13.83411;cMI_13.57866 mfDCA_43.06;mfDCA_38.66;mfDCA_33.28;mfDCA_32.98;mfDCA_37.45;mfDCA_27.97;mfDCA_37.96;mfDCA_22.41;mfDCA_21.64;cMI_14.42049;mfDCA_34.27;mfDCA_26.86;mfDCA_79.1;mfDCA_31.92;cMI_49.89251;cMI_42.92984;cMI_41.72575;cMI_41.35901;cMI_39.83745;cMI_39.80877;cMI_39.28621;cMI_39.25341;cMI_38.90435;cMI_37.23441;cMI_37.10332;cMI_35.91475;cMI_35.72486;cMI_34.76365;cMI_34.26473;cMI_32.72981;cMI_31.32613;cMI_30.89244;cMI_22.94652;cMI_22.92951;cMI_22.78181;cMI_22.0794;cMI_21.36701;cMI_21.16552;cMI_19.74607;cMI_19.27132;cMI_18.72378;cMI_18.45074;cMI_18.01385;cMI_45.83789;cMI_44.22917;cMI_36.96359;cMI_36.7885;cMI_36.36468;cMI_34.82834;cMI_34.44059;cMI_34.16881;cMI_34.00615;cMI_33.7583;cMI_32.86419;cMI_32.3116;cMI_32.27547;cMI_31.86143;cMI_31.70077;cMI_30.23993;cMI_22.23638;cMI_19.73961;cMI_19.16892;cMI_15.51931;cMI_14.42049;cMI_12.72224;cMI_12.48772;cMI_45.56686;cMI_39.36692;cMI_39.2702;cMI_39.21392;cMI_37.50221;cMI_37.33206;cMI_37.03395;cMI_36.14669;cMI_36.0487;cMI_36.01114;cMI_35.29195;cMI_33.17587;cMI_32.8188;cMI_31.61218;cMI_19.13398;cMI_17.85636;cMI_17.52418;cMI_16.19448;cMI_14.52225;cMI_13.83411;cMI_13.57866 mfDCA_43.06;mfDCA_38.66;mfDCA_33.28;mfDCA_32.98;mfDCA_37.45;mfDCA_27.97;mfDCA_37.96;mfDCA_22.41;mfDCA_21.64;cMI_14.42049;mfDCA_34.27;mfDCA_26.86;mfDCA_79.1;mfDCA_31.92;cMI_49.89251;cMI_42.92984;cMI_41.72575;cMI_41.35901;cMI_39.83745;cMI_39.80877;cMI_39.28621;cMI_39.25341;cMI_38.90435;cMI_37.23441;cMI_37.10332;cMI_35.91475;cMI_35.72486;cMI_34.76365;cMI_34.26473;cMI_32.72981;cMI_31.32613;cMI_30.89244;cMI_22.94652;cMI_22.92951;cMI_22.78181;cMI_22.0794;cMI_21.36701;cMI_21.16552;cMI_19.74607;cMI_19.27132;cMI_18.72378;cMI_18.45074;cMI_18.01385;cMI_45.83789;cMI_44.22917;cMI_36.96359;cMI_36.7885;cMI_36.36468;cMI_34.82834;cMI_34.44059;cMI_34.16881;cMI_34.00615;cMI_33.7583;cMI_32.86419;cMI_32.3116;cMI_32.27547;cMI_31.86143;cMI_31.70077;cMI_30.23993;cMI_22.23638;cMI_19.73961;cMI_19.16892;cMI_15.51931;cMI_14.42049;cMI_12.72224;cMI_12.48772;cMI_45.56686;cMI_39.36692;cMI_39.2702;cMI_39.21392;cMI_37.50221;cMI_37.33206;cMI_37.03395;cMI_36.14669;cMI_36.0487;cMI_36.01114;cMI_35.29195;cMI_33.17587;cMI_32.8188;cMI_31.61218;cMI_19.13398;cMI_17.85636;cMI_17.52418;cMI_16.19448;cMI_14.52225;cMI_13.83411;cMI_13.57866
Site A IntraP ND3_45 ND3_45 ND3_45 ND3_45 ND3_45 ND3_45
Site B IntraP ND3_35;ND3_18;ND3_88;ND3_8;ND3_97;ND3_89;ND3_4;ND3_49;ND3_21;ND3_79;ND3_29;ND3_19;ND3_44;ND3_15;ND3_112;ND3_91;ND3_35;ND3_88;ND3_89;ND3_19;ND3_44;ND3_21;ND3_107 ND3_35;ND3_18;ND3_88;ND3_8;ND3_97;ND3_89;ND3_4;ND3_49;ND3_21;ND3_79;ND3_29;ND3_19;ND3_44;ND3_15;ND3_112;ND3_91;ND3_35;ND3_88;ND3_89;ND3_19;ND3_44;ND3_21;ND3_107 ND3_35;ND3_18;ND3_88;ND3_8;ND3_97;ND3_89;ND3_4;ND3_49;ND3_21;ND3_79;ND3_29;ND3_19;ND3_44;ND3_15;ND3_112;ND3_91;ND3_35;ND3_88;ND3_89;ND3_19;ND3_44;ND3_21;ND3_107 ND3_35;ND3_18;ND3_88;ND3_8;ND3_97;ND3_89;ND3_4;ND3_49;ND3_21;ND3_79;ND3_29;ND3_19;ND3_44;ND3_15;ND3_112;ND3_91;ND3_35;ND3_88;ND3_89;ND3_19;ND3_44;ND3_21;ND3_107 ND3_35;ND3_18;ND3_88;ND3_8;ND3_97;ND3_89;ND3_4;ND3_49;ND3_21;ND3_79;ND3_29;ND3_19;ND3_44;ND3_15;ND3_112;ND3_91;ND3_35;ND3_88;ND3_89;ND3_19;ND3_44;ND3_21;ND3_107 ND3_35;ND3_18;ND3_88;ND3_8;ND3_97;ND3_89;ND3_4;ND3_49;ND3_21;ND3_79;ND3_29;ND3_19;ND3_44;ND3_15;ND3_112;ND3_91;ND3_35;ND3_88;ND3_89;ND3_19;ND3_44;ND3_21;ND3_107
Covariation Score IntraP mfDCA_24.6929;cMI_18.130184;mfDCA_22.1031;cMI_15.679218;cMI_15.674643;mfDCA_18.5493;cMI_15.140093;cMI_12.779061;mfDCA_16.7255;cMI_12.428753;cMI_12.024128;mfDCA_18.0094;mfDCA_17.102;cMI_10.232872;cMI_10.168221;cMI_9.709738;mfDCA_24.6929;mfDCA_22.1031;mfDCA_18.5493;mfDCA_18.0094;mfDCA_17.102;mfDCA_16.7255;mfDCA_15.438 mfDCA_24.6929;cMI_18.130184;mfDCA_22.1031;cMI_15.679218;cMI_15.674643;mfDCA_18.5493;cMI_15.140093;cMI_12.779061;mfDCA_16.7255;cMI_12.428753;cMI_12.024128;mfDCA_18.0094;mfDCA_17.102;cMI_10.232872;cMI_10.168221;cMI_9.709738;mfDCA_24.6929;mfDCA_22.1031;mfDCA_18.5493;mfDCA_18.0094;mfDCA_17.102;mfDCA_16.7255;mfDCA_15.438 mfDCA_24.6929;cMI_18.130184;mfDCA_22.1031;cMI_15.679218;cMI_15.674643;mfDCA_18.5493;cMI_15.140093;cMI_12.779061;mfDCA_16.7255;cMI_12.428753;cMI_12.024128;mfDCA_18.0094;mfDCA_17.102;cMI_10.232872;cMI_10.168221;cMI_9.709738;mfDCA_24.6929;mfDCA_22.1031;mfDCA_18.5493;mfDCA_18.0094;mfDCA_17.102;mfDCA_16.7255;mfDCA_15.438 mfDCA_24.6929;cMI_18.130184;mfDCA_22.1031;cMI_15.679218;cMI_15.674643;mfDCA_18.5493;cMI_15.140093;cMI_12.779061;mfDCA_16.7255;cMI_12.428753;cMI_12.024128;mfDCA_18.0094;mfDCA_17.102;cMI_10.232872;cMI_10.168221;cMI_9.709738;mfDCA_24.6929;mfDCA_22.1031;mfDCA_18.5493;mfDCA_18.0094;mfDCA_17.102;mfDCA_16.7255;mfDCA_15.438 mfDCA_24.6929;cMI_18.130184;mfDCA_22.1031;cMI_15.679218;cMI_15.674643;mfDCA_18.5493;cMI_15.140093;cMI_12.779061;mfDCA_16.7255;cMI_12.428753;cMI_12.024128;mfDCA_18.0094;mfDCA_17.102;cMI_10.232872;cMI_10.168221;cMI_9.709738;mfDCA_24.6929;mfDCA_22.1031;mfDCA_18.5493;mfDCA_18.0094;mfDCA_17.102;mfDCA_16.7255;mfDCA_15.438 mfDCA_24.6929;cMI_18.130184;mfDCA_22.1031;cMI_15.679218;cMI_15.674643;mfDCA_18.5493;cMI_15.140093;cMI_12.779061;mfDCA_16.7255;cMI_12.428753;cMI_12.024128;mfDCA_18.0094;mfDCA_17.102;cMI_10.232872;cMI_10.168221;cMI_9.709738;mfDCA_24.6929;mfDCA_22.1031;mfDCA_18.5493;mfDCA_18.0094;mfDCA_17.102;mfDCA_16.7255;mfDCA_15.438
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-ND3:S45P:L107Q:5.1219:4.1339:0.964638;MT-ND3:S45P:L107R:4.80834:4.1339:0.654602;MT-ND3:S45P:L107P:8.85061:4.1339:4.56316;MT-ND3:S45P:L107V:5.75541:4.1339:1.58272;MT-ND3:S45P:L107M:3.93827:4.1339:-0.186263;MT-ND3:S45P:D112H:4.20228:4.1339:0.0340833;MT-ND3:S45P:D112Y:3.77103:4.1339:-0.433469;MT-ND3:S45P:D112N:4.16016:4.1339:-0.0131052;MT-ND3:S45P:D112E:3.96989:4.1339:-0.258161;MT-ND3:S45P:D112G:4.55127:4.1339:0.414236;MT-ND3:S45P:D112V:4.3272:4.1339:0.179616;MT-ND3:S45P:D112A:3.66153:4.1339:-0.418179;MT-ND3:S45P:V49G:5.06697:4.1339:0.888794;MT-ND3:S45P:V49A:4.39278:4.1339:0.193963;MT-ND3:S45P:V49L:3.81485:4.1339:-0.289594;MT-ND3:S45P:V49D:3.5169:4.1339:-0.607087;MT-ND3:S45P:V49F:3.48098:4.1339:-0.639481;MT-ND3:S45P:V49I:4.28611:4.1339:-0.482548;MT-ND3:S45P:L79Q:4.85566:4.1339:0.615227;MT-ND3:S45P:L79R:5.1586:4.1339:1.00907;MT-ND3:S45P:L79M:3.98456:4.1339:-0.174798;MT-ND3:S45P:L79V:5.84676:4.1339:1.69291;MT-ND3:S45P:L79P:7.80779:4.1339:3.64483;MT-ND3:S45P:G29D:4.40541:4.1339:0.254493;MT-ND3:S45P:G29A:4.25797:4.1339:0.171581;MT-ND3:S45P:G29C:4.43954:4.1339:0.290877;MT-ND3:S45P:G29S:4.20152:4.1339:0.061955;MT-ND3:S45P:G29V:4.69077:4.1339:0.518345;MT-ND3:S45P:G29R:4.21889:4.1339:0.0789448;MT-ND3:S45P:T35A:4.19861:4.1339:0.0855016;MT-ND3:S45P:T35N:4.46139:4.1339:0.309927;MT-ND3:S45P:T35S:4.57446:4.1339:0.233842;MT-ND3:S45P:T35P:4.57535:4.1339:0.442305;MT-ND3:S45P:T35I:3.60392:4.1339:-0.515883;MT-ND3:S45P:M44T:4.71464:4.1339:0.4131;MT-ND3:S45P:M44K:4.25508:4.1339:0.331748;MT-ND3:S45P:M44I:4.34348:4.1339:0.322536;MT-ND3:S45P:M44V:4.66005:4.1339:0.489564;MT-ND3:S45P:M44L:4.29145:4.1339:0.360285;MT-ND3:S45P:A4P:2.705:4.1339:-1.526;MT-ND3:S45P:A4S:5.07628:4.1339:0.901348;MT-ND3:S45P:A4G:5.18293:4.1339:1.08914;MT-ND3:S45P:A4V:4.28057:4.1339:0.176529;MT-ND3:S45P:A4D:4.33837:4.1339:0.190562;MT-ND3:S45P:A4T:5.51494:4.1339:1.29799 MT-ND3:S45A:L107Q:1.86944:0.898719:0.964638;MT-ND3:S45A:L107V:2.4996:0.898719:1.58272;MT-ND3:S45A:L107M:0.715066:0.898719:-0.186263;MT-ND3:S45A:L107P:5.69195:0.898719:4.56316;MT-ND3:S45A:L107R:1.54806:0.898719:0.654602;MT-ND3:S45A:D112N:0.927985:0.898719:-0.0131052;MT-ND3:S45A:D112Y:0.523376:0.898719:-0.433469;MT-ND3:S45A:D112A:0.520717:0.898719:-0.418179;MT-ND3:S45A:D112G:1.3301:0.898719:0.414236;MT-ND3:S45A:D112E:0.712251:0.898719:-0.258161;MT-ND3:S45A:D112H:1.01463:0.898719:0.0340833;MT-ND3:S45A:D112V:1.12683:0.898719:0.179616;MT-ND3:S45A:V49G:1.91344:0.898719:0.888794;MT-ND3:S45A:V49A:1.18917:0.898719:0.193963;MT-ND3:S45A:V49I:1.04652:0.898719:-0.482548;MT-ND3:S45A:V49D:0.361223:0.898719:-0.607087;MT-ND3:S45A:V49F:0.363601:0.898719:-0.639481;MT-ND3:S45A:V49L:0.656181:0.898719:-0.289594;MT-ND3:S45A:L79Q:1.61103:0.898719:0.615227;MT-ND3:S45A:L79M:0.765146:0.898719:-0.174798;MT-ND3:S45A:L79P:4.64388:0.898719:3.64483;MT-ND3:S45A:L79V:2.59329:0.898719:1.69291;MT-ND3:S45A:L79R:1.91579:0.898719:1.00907;MT-ND3:S45A:G29R:1.02808:0.898719:0.0789448;MT-ND3:S45A:G29S:0.984365:0.898719:0.061955;MT-ND3:S45A:G29C:1.2321:0.898719:0.290877;MT-ND3:S45A:G29D:1.16518:0.898719:0.254493;MT-ND3:S45A:G29V:1.44128:0.898719:0.518345;MT-ND3:S45A:G29A:1.08002:0.898719:0.171581;MT-ND3:S45A:T35I:0.400209:0.898719:-0.515883;MT-ND3:S45A:T35P:1.37802:0.898719:0.442305;MT-ND3:S45A:T35S:1.32111:0.898719:0.233842;MT-ND3:S45A:T35N:1.22877:0.898719:0.309927;MT-ND3:S45A:T35A:1.00227:0.898719:0.0855016;MT-ND3:S45A:M44L:1.1635:0.898719:0.360285;MT-ND3:S45A:M44I:1.172:0.898719:0.322536;MT-ND3:S45A:M44K:1.1209:0.898719:0.331748;MT-ND3:S45A:M44V:1.30387:0.898719:0.489564;MT-ND3:S45A:M44T:1.30656:0.898719:0.4131;MT-ND3:S45A:A4D:1.05147:0.898719:0.190562;MT-ND3:S45A:A4P:-0.509629:0.898719:-1.526;MT-ND3:S45A:A4G:2.00368:0.898719:1.08914;MT-ND3:S45A:A4S:1.82332:0.898719:0.901348;MT-ND3:S45A:A4V:1.29706:0.898719:0.176529;MT-ND3:S45A:A4T:2.66952:0.898719:1.29799 MT-ND3:S45T:L107M:-0.381736:-0.193334:-0.186263;MT-ND3:S45T:L107R:0.471732:-0.193334:0.654602;MT-ND3:S45T:L107P:4.50682:-0.193334:4.56316;MT-ND3:S45T:L107V:1.38096:-0.193334:1.58272;MT-ND3:S45T:L107Q:0.786723:-0.193334:0.964638;MT-ND3:S45T:D112V:-0.0198059:-0.193334:0.179616;MT-ND3:S45T:D112E:-0.445382:-0.193334:-0.258161;MT-ND3:S45T:D112G:0.202581:-0.193334:0.414236;MT-ND3:S45T:D112A:-0.626307:-0.193334:-0.418179;MT-ND3:S45T:D112Y:-0.636864:-0.193334:-0.433469;MT-ND3:S45T:D112N:-0.201313:-0.193334:-0.0131052;MT-ND3:S45T:D112H:-0.145536:-0.193334:0.0340833;MT-ND3:S45T:V49F:-0.827647:-0.193334:-0.639481;MT-ND3:S45T:V49D:-0.82733:-0.193334:-0.607087;MT-ND3:S45T:V49L:-0.356219:-0.193334:-0.289594;MT-ND3:S45T:V49G:0.795547:-0.193334:0.888794;MT-ND3:S45T:V49I:-0.547249:-0.193334:-0.482548;MT-ND3:S45T:V49A:0.303211:-0.193334:0.193963;MT-ND3:S45T:L79P:3.45752:-0.193334:3.64483;MT-ND3:S45T:L79M:-0.355915:-0.193334:-0.174798;MT-ND3:S45T:L79Q:0.443294:-0.193334:0.615227;MT-ND3:S45T:L79V:1.49783:-0.193334:1.69291;MT-ND3:S45T:L79R:0.819644:-0.193334:1.00907;MT-ND3:S45T:G29C:0.100006:-0.193334:0.290877;MT-ND3:S45T:G29D:0.0640916:-0.193334:0.254493;MT-ND3:S45T:G29S:-0.130535:-0.193334:0.061955;MT-ND3:S45T:G29A:-0.0189741:-0.193334:0.171581;MT-ND3:S45T:G29R:-0.103894:-0.193334:0.0789448;MT-ND3:S45T:G29V:0.325636:-0.193334:0.518345;MT-ND3:S45T:T35A:-0.102041:-0.193334:0.0855016;MT-ND3:S45T:T35S:0.0445892:-0.193334:0.233842;MT-ND3:S45T:T35N:0.146617:-0.193334:0.309927;MT-ND3:S45T:T35P:0.248048:-0.193334:0.442305;MT-ND3:S45T:T35I:-0.708227:-0.193334:-0.515883;MT-ND3:S45T:M44K:0.114574:-0.193334:0.331748;MT-ND3:S45T:M44T:0.268254:-0.193334:0.4131;MT-ND3:S45T:M44V:0.340112:-0.193334:0.489564;MT-ND3:S45T:M44I:0.140842:-0.193334:0.322536;MT-ND3:S45T:M44L:0.0106605:-0.193334:0.360285;MT-ND3:S45T:A4S:0.708495:-0.193334:0.901348;MT-ND3:S45T:A4G:0.900125:-0.193334:1.08914;MT-ND3:S45T:A4P:-1.64918:-0.193334:-1.526;MT-ND3:S45T:A4D:0.0231006:-0.193334:0.190562;MT-ND3:S45T:A4V:-0.0981623:-0.193334:0.176529;MT-ND3:S45T:A4T:1.44737:-0.193334:1.29799 MT-ND3:S45Y:L107V:2.32591:0.6055:1.58272;MT-ND3:S45Y:L107P:5.40646:0.6055:4.56316;MT-ND3:S45Y:L107M:0.50254:0.6055:-0.186263;MT-ND3:S45Y:L107Q:1.68566:0.6055:0.964638;MT-ND3:S45Y:D112G:0.975755:0.6055:0.414236;MT-ND3:S45Y:D112A:0.227884:0.6055:-0.418179;MT-ND3:S45Y:D112H:0.669175:0.6055:0.0340833;MT-ND3:S45Y:D112E:0.459912:0.6055:-0.258161;MT-ND3:S45Y:D112N:0.62202:0.6055:-0.0131052;MT-ND3:S45Y:D112V:0.84797:0.6055:0.179616;MT-ND3:S45Y:V49L:0.396099:0.6055:-0.289594;MT-ND3:S45Y:V49F:0.056688:0.6055:-0.639481;MT-ND3:S45Y:V49D:0.062921:0.6055:-0.607087;MT-ND3:S45Y:V49I:0.872843:0.6055:-0.482548;MT-ND3:S45Y:V49G:1.62741:0.6055:0.888794;MT-ND3:S45Y:L79V:2.3271:0.6055:1.69291;MT-ND3:S45Y:L79M:0.571163:0.6055:-0.174798;MT-ND3:S45Y:L79R:1.5776:0.6055:1.00907;MT-ND3:S45Y:L79P:4.30922:0.6055:3.64483;MT-ND3:S45Y:D112Y:0.270734:0.6055:-0.433469;MT-ND3:S45Y:L79Q:1.29823:0.6055:0.615227;MT-ND3:S45Y:V49A:0.9252:0.6055:0.193963;MT-ND3:S45Y:L107R:1.29055:0.6055:0.654602;MT-ND3:S45Y:G29R:0.719265:0.6055:0.0789448;MT-ND3:S45Y:G29A:0.82546:0.6055:0.171581;MT-ND3:S45Y:G29S:0.697066:0.6055:0.061955;MT-ND3:S45Y:G29V:1.14448:0.6055:0.518345;MT-ND3:S45Y:G29D:0.87644:0.6055:0.254493;MT-ND3:S45Y:T35I:0.142279:0.6055:-0.515883;MT-ND3:S45Y:T35N:0.927255:0.6055:0.309927;MT-ND3:S45Y:T35S:1.02729:0.6055:0.233842;MT-ND3:S45Y:T35P:1.00572:0.6055:0.442305;MT-ND3:S45Y:M44T:1.12536:0.6055:0.4131;MT-ND3:S45Y:M44L:0.776645:0.6055:0.360285;MT-ND3:S45Y:M44V:0.89617:0.6055:0.489564;MT-ND3:S45Y:M44K:0.808765:0.6055:0.331748;MT-ND3:S45Y:A4V:1.06032:0.6055:0.176529;MT-ND3:S45Y:A4T:1.82082:0.6055:1.29799;MT-ND3:S45Y:A4P:-0.809287:0.6055:-1.526;MT-ND3:S45Y:A4S:1.52907:0.6055:0.901348;MT-ND3:S45Y:A4G:1.76796:0.6055:1.08914;MT-ND3:S45Y:T35A:0.755983:0.6055:0.0855016;MT-ND3:S45Y:M44I:0.480335:0.6055:0.322536;MT-ND3:S45Y:A4D:0.788075:0.6055:0.190562;MT-ND3:S45Y:G29C:0.904387:0.6055:0.290877 MT-ND3:S45F:L107Q:1.49813:0.503661:0.964638;MT-ND3:S45F:L107V:2.17291:0.503661:1.58272;MT-ND3:S45F:L107M:0.271432:0.503661:-0.186263;MT-ND3:S45F:L107P:5.1301:0.503661:4.56316;MT-ND3:S45F:L107R:1.17674:0.503661:0.654602;MT-ND3:S45F:D112H:0.556441:0.503661:0.0340833;MT-ND3:S45F:D112N:0.492885:0.503661:-0.0131052;MT-ND3:S45F:D112A:0.0979919:0.503661:-0.418179;MT-ND3:S45F:D112Y:0.117732:0.503661:-0.433469;MT-ND3:S45F:D112G:0.813154:0.503661:0.414236;MT-ND3:S45F:D112E:0.348247:0.503661:-0.258161;MT-ND3:S45F:D112V:0.694058:0.503661:0.179616;MT-ND3:S45F:V49D:-0.0898759:0.503661:-0.607087;MT-ND3:S45F:V49F:-0.105163:0.503661:-0.639481;MT-ND3:S45F:V49A:0.791301:0.503661:0.193963;MT-ND3:S45F:V49I:0.785048:0.503661:-0.482548;MT-ND3:S45F:V49G:1.48081:0.503661:0.888794;MT-ND3:S45F:V49L:0.209412:0.503661:-0.289594;MT-ND3:S45F:L79V:2.08106:0.503661:1.69291;MT-ND3:S45F:L79M:0.39727:0.503661:-0.174798;MT-ND3:S45F:L79P:4.19811:0.503661:3.64483;MT-ND3:S45F:L79R:1.58043:0.503661:1.00907;MT-ND3:S45F:L79Q:1.15178:0.503661:0.615227;MT-ND3:S45F:G29D:0.777833:0.503661:0.254493;MT-ND3:S45F:G29V:0.893807:0.503661:0.518345;MT-ND3:S45F:G29S:0.558952:0.503661:0.061955;MT-ND3:S45F:G29A:0.710058:0.503661:0.171581;MT-ND3:S45F:G29R:0.637593:0.503661:0.0789448;MT-ND3:S45F:G29C:0.780297:0.503661:0.290877;MT-ND3:S45F:T35N:0.804215:0.503661:0.309927;MT-ND3:S45F:T35P:0.896665:0.503661:0.442305;MT-ND3:S45F:T35A:0.547631:0.503661:0.0855016;MT-ND3:S45F:T35I:-0.0204942:0.503661:-0.515883;MT-ND3:S45F:T35S:0.78972:0.503661:0.233842;MT-ND3:S45F:M44L:0.347368:0.503661:0.360285;MT-ND3:S45F:M44V:0.554149:0.503661:0.489564;MT-ND3:S45F:M44T:0.994677:0.503661:0.4131;MT-ND3:S45F:M44I:0.374943:0.503661:0.322536;MT-ND3:S45F:M44K:0.695619:0.503661:0.331748;MT-ND3:S45F:A4V:0.658189:0.503661:0.176529;MT-ND3:S45F:A4P:-0.934704:0.503661:-1.526;MT-ND3:S45F:A4G:1.57964:0.503661:1.08914;MT-ND3:S45F:A4T:1.65751:0.503661:1.29799;MT-ND3:S45F:A4D:0.708873:0.503661:0.190562;MT-ND3:S45F:A4S:1.27838:0.503661:0.901348 MT-ND3:S45C:L107P:5.50999:0.826151:4.56316;MT-ND3:S45C:L107M:0.6183:0.826151:-0.186263;MT-ND3:S45C:L107V:2.39813:0.826151:1.58272;MT-ND3:S45C:L107R:1.48454:0.826151:0.654602;MT-ND3:S45C:L107Q:1.73148:0.826151:0.964638;MT-ND3:S45C:D112Y:0.398607:0.826151:-0.433469;MT-ND3:S45C:D112E:0.546487:0.826151:-0.258161;MT-ND3:S45C:D112G:1.22005:0.826151:0.414236;MT-ND3:S45C:D112N:0.783482:0.826151:-0.0131052;MT-ND3:S45C:D112H:0.866113:0.826151:0.0340833;MT-ND3:S45C:D112A:0.3159:0.826151:-0.418179;MT-ND3:S45C:D112V:1.01008:0.826151:0.179616;MT-ND3:S45C:V49D:0.313673:0.826151:-0.607087;MT-ND3:S45C:V49G:1.84501:0.826151:0.888794;MT-ND3:S45C:V49A:1.14598:0.826151:0.193963;MT-ND3:S45C:V49L:0.552329:0.826151:-0.289594;MT-ND3:S45C:V49F:0.324433:0.826151:-0.639481;MT-ND3:S45C:V49I:0.920002:0.826151:-0.482548;MT-ND3:S45C:L79V:2.50222:0.826151:1.69291;MT-ND3:S45C:L79R:1.70268:0.826151:1.00907;MT-ND3:S45C:L79P:4.53785:0.826151:3.64483;MT-ND3:S45C:L79M:0.653034:0.826151:-0.174798;MT-ND3:S45C:L79Q:1.46177:0.826151:0.615227;MT-ND3:S45C:G29D:1.01752:0.826151:0.254493;MT-ND3:S45C:G29S:0.916085:0.826151:0.061955;MT-ND3:S45C:G29C:1.13128:0.826151:0.290877;MT-ND3:S45C:G29A:0.98033:0.826151:0.171581;MT-ND3:S45C:G29R:0.789326:0.826151:0.0789448;MT-ND3:S45C:G29V:1.34477:0.826151:0.518345;MT-ND3:S45C:T35S:1.25284:0.826151:0.233842;MT-ND3:S45C:T35P:1.29424:0.826151:0.442305;MT-ND3:S45C:T35N:1.15791:0.826151:0.309927;MT-ND3:S45C:T35A:0.893042:0.826151:0.0855016;MT-ND3:S45C:T35I:0.284032:0.826151:-0.515883;MT-ND3:S45C:M44T:1.22718:0.826151:0.4131;MT-ND3:S45C:M44L:1.00458:0.826151:0.360285;MT-ND3:S45C:M44K:1.03591:0.826151:0.331748;MT-ND3:S45C:M44I:0.999161:0.826151:0.322536;MT-ND3:S45C:M44V:1.22112:0.826151:0.489564;MT-ND3:S45C:A4G:1.86863:0.826151:1.08914;MT-ND3:S45C:A4D:0.997836:0.826151:0.190562;MT-ND3:S45C:A4S:1.7267:0.826151:0.901348;MT-ND3:S45C:A4T:2.06432:0.826151:1.29799;MT-ND3:S45C:A4V:1.26122:0.826151:0.176529;MT-ND3:S45C:A4P:-0.505855:0.826151:-1.526
DDG intra interface 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DDG inter 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MT-ND3:MT-ND1:5lc5:A:H:S45C:A64D:-0.5585:-0.407060623:0.00521049509;MT-ND3:MT-ND1:5lc5:A:H:S45C:A64P:3.08538:-0.407060623:3.39117956;MT-ND3:MT-ND1:5lc5:A:H:S45C:A64G:-0.78346:-0.407060623:-0.339129269;MT-ND3:MT-ND1:5lc5:A:H:S45C:A64T:-0.26711:-0.407060623:0.20746994;MT-ND3:MT-ND1:5lc5:A:H:S45C:A64S:-0.40206:-0.407060623:-0.015329361;MT-ND3:MT-ND1:5lc5:A:H:S45C:A64V:-0.38816:-0.407060623:0.204209521;MT-ND3:MT-ND1:5lc5:A:H:S45C:K62T:0.2024:-0.407060623:0.832580209;MT-ND3:MT-ND1:5lc5:A:H:S45C:K62Q:-0.63482:-0.407060623:-0.241339117;MT-ND3:MT-ND1:5lc5:A:H:S45C:K62E:0.17853:-0.407060623:0.412649542;MT-ND3:MT-ND1:5lc5:A:H:S45C:K62N:0.47653:-0.407060623:0.846379876;MT-ND3:MT-ND1:5lc5:A:H:S45C:K62M:-0.69975:-0.407060623:-0.217529684;MT-ND3:MT-ND1:5lc5:A:H:S45C:N126Y:0.28527:-0.407060623:0.641970038;MT-ND3:MT-ND1:5lc5:A:H:S45C:N126I:0.14472:-0.407060623:0.053360749;MT-ND3:MT-ND1:5lc5:A:H:S45C:N126K:0.39591:-0.407060623:0.553079605;MT-ND3:MT-ND1:5lc5:A:H:S45C:N126T:0.95956:-0.407060623:0.124269105;MT-ND3:MT-ND1:5lc5:A:H:S45C:N126S:0.14806:-0.407060623:0.245739743;MT-ND3:MT-ND1:5lc5:A:H:S45C:N126H:0.91904:-0.407060623:0.694760144;MT-ND3:MT-ND1:5lc5:A:H:S45C:N126D:1.69902:-0.407060623:1.59534991;MT-ND3:MT-ND1:5ldw:A:H:S45C:A64D:0.12722:-0.0661293045:0.016371537;MT-ND3:MT-ND1:5ldw:A:H:S45C:A64P:1.58854:-0.0661293045:1.89254951;MT-ND3:MT-ND1:5ldw:A:H:S45C:A64G:-0.49347:-0.0661293045:-0.290697873;MT-ND3:MT-ND1:5ldw:A:H:S45C:A64T:0.00913:-0.0661293045:0.10172081;MT-ND3:MT-ND1:5ldw:A:H:S45C:A64S:-0.32393:-0.0661293045:-0.00129890442;MT-ND3:MT-ND1:5ldw:A:H:S45C:A64V:-0.01284:-0.0661293045:0.0742809325;MT-ND3:MT-ND1:5ldw:A:H:S45C:K62T:-0.11214:-0.0661293045:0.183251187;MT-ND3:MT-ND1:5ldw:A:H:S45C:K62Q:-0.31279:-0.0661293045:-0.0290084835;MT-ND3:MT-ND1:5ldw:A:H:S45C:K62E:0.01122:-0.0661293045:0.301341236;MT-ND3:MT-ND1:5ldw:A:H:S45C:K62N:0.41846:-0.0661293045:0.465351105;MT-ND3:MT-ND1:5ldw:A:H:S45C:K62M:-0.04728:-0.0661293045:-0.012728882;MT-ND3:MT-ND1:5ldw:A:H:S45C:N126Y:0.77761:-0.0661293045:0.15291062;MT-ND3:MT-ND1:5ldw:A:H:S45C:N126I:0.52092:-0.0661293045:0.457019031;MT-ND3:MT-ND1:5ldw:A:H:S45C:N126K:0.69869:-0.0661293045:-0.182450861;MT-ND3:MT-ND1:5ldw:A:H:S45C:N126T:-0.18046:-0.0661293045:-0.612128854;MT-ND3:MT-ND1:5ldw:A:H:S45C:N126S:-0.01034:-0.0661293045:-0.494969934;MT-ND3:MT-ND1:5ldw:A:H:S45C:N126H:0.70821:-0.0661293045:0.233639911;MT-ND3:MT-ND1:5ldw:A:H:S45C:N126D:1.48361:-0.0661293045:0.906030297;MT-ND3:MT-ND1:5ldx:A:H:S45C:A64D:0.48422:0.429790109:-0.0113109592;MT-ND3:MT-ND1:5ldx:A:H:S45C:A64P:3.28226:0.429790109:3.81227994;MT-ND3:MT-ND1:5ldx:A:H:S45C:A64G:0.14561:0.429790109:-0.325099945;MT-ND3:MT-ND1:5ldx:A:H:S45C:A64T:0.6507:0.429790109:0.107588194;MT-ND3:MT-ND1:5ldx:A:H:S45C:A64S:0.49515:0.429790109:-0.00452117901;MT-ND3:MT-ND1:5ldx:A:H:S45C:A64V:0.51522:0.429790109:-0.00509109488;MT-ND3:MT-ND1:5ldx:A:H:S45C:K62T:0.53656:0.429790109:0.109650038;MT-ND3:MT-ND1:5ldx:A:H:S45C:K62Q:0.51468:0.429790109:0.0151092531;MT-ND3:MT-ND1:5ldx:A:H:S45C:K62E:1.04964:0.429790109:0.575948715;MT-ND3:MT-ND1:5ldx:A:H:S45C:K62N:0.92703:0.429790109:0.452788532;MT-ND3:MT-ND1:5ldx:A:H:S45C:K62M:0.45475:0.429790109:0.0504192337;MT-ND3:MT-ND1:5ldx:A:H:S45C:N126Y:0.86517:0.429790109:0.512129188;MT-ND3:MT-ND1:5ldx:A:H:S45C:N126I:1.07576:0.429790109:0.753100991;MT-ND3:MT-ND1:5ldx:A:H:S45C:N126K:0.82719:0.429790109:0.152239606;MT-ND3:MT-ND1:5ldx:A:H:S45C:N126T:0.18631:0.429790109:-0.200669855;MT-ND3:MT-ND1:5ldx:A:H:S45C:N126S:0.33406:0.429790109:-0.153670117;MT-ND3:MT-ND1:5ldx:A:H:S45C:N126H:1.05507:0.429790109:0.557869315;MT-ND3:MT-ND1:5ldx:A:H:S45C:N126D:1.67161:0.429790109:1.31459963
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