General info

Chr
chrM
Start
10680
End
10680
Ref
G
Alt
A
Mitimpact ID
MI.16139
Gene symbol
MT-ND4L
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
211
AA pos
71
AA ref
A
AA alt
T
Codon substitution
Gca/Aca
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Powered by MitoWheel

Conservation

PhyloP 100v
0.06 Conservation Score
PhastCons 100v
0.94 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
Deleterious Score and details of the predictor
Mutation Assessor
High 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
Disease causing Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Disease Score and details of the predictor
MitoClass 1
Damaging 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
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
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
High 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
Lhon / synergistic combo 10680a + 12033g + 14258a
MITOMAP Homoplasmy
+
MITOMAP Heteroplasmy
-
MITOMAP Status
Reported / possibly synergistic
MITOMAP NRef
4
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
.

10680 (G > T)

General info

Chr
chrM
Start
10680
End
10680
Ref
G
Alt
T
Mitimpact ID
MI.16140
Gene symbol
MT-ND4L
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
211
AA pos
71
AA ref
A
AA alt
S
Codon substitution
Gca/Tca
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Powered by MitoWheel

Conservation

PhyloP 100v
0.06 Conservation Score
PhastCons 100v
0.94 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
Disease Score and details of the predictor
MutationTaster
Disease causing 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
.

10680 (G > C)

General info

Chr
chrM
Start
10680
End
10680
Ref
G
Alt
C
Mitimpact ID
MI.16141
Gene symbol
MT-ND4L
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
211
AA pos
71
AA ref
A
AA alt
P
Codon substitution
Gca/Cca
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
0.06 Conservation Score
PhastCons 100v
0.94 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
Deleterious Score and details of the predictor
Mutation Assessor
High 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
Disease Score and details of the predictor
PhD-SNP
Disease Score and details of the predictor
MutationTaster
Disease causing Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Disease Score and details of the predictor
MitoClass 1
Damaging 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
Deleterious 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
High 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
.

10681 (C > T)

General info

Chr
chrM
Start
10681
End
10681
Ref
C
Alt
T
Mitimpact ID
MI.16142
Gene symbol
MT-ND4L
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
212
AA pos
71
AA ref
A
AA alt
V
Codon substitution
gCa/gTa
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
5.13 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
Deleterious Score and details of the predictor
Mutation Assessor
High 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
Disease causing Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Disease Score and details of the predictor
MitoClass 1
Damaging 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
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
High 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
.

10681 (C > G)

General info

Chr
chrM
Start
10681
End
10681
Ref
C
Alt
G
Mitimpact ID
MI.16143
Gene symbol
MT-ND4L
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
212
AA pos
71
AA ref
A
AA alt
G
Codon substitution
gCa/gGa
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
5.13 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
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
Disease causing 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
Disease 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 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
.

10681 (C > A)

General info

Chr
chrM
Start
10681
End
10681
Ref
C
Alt
A
Mitimpact ID
MI.16144
Gene symbol
MT-ND4L
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
212
AA pos
71
AA ref
A
AA alt
E
Codon substitution
gCa/gAa
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
5.13 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
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
High 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
Disease causing Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Disease Score and details of the predictor
MitoClass 1
Damaging 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
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
High 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
.
~ 10680 (G/A) 10680 (G/T) 10680 (G/C) 10681 (C/T) 10681 (C/G) 10681 (C/A)
~ 10680 (Gca/Aca) 10680 (Gca/Tca) 10680 (Gca/Cca) 10681 (gCa/gTa) 10681 (gCa/gGa) 10681 (gCa/gAa)
Chr chrM chrM chrM chrM chrM chrM
Start 10680 10680 10680 10681 10681 10681
End 10680 10680 10680 10681 10681 10681
Ref G G G C C C
Alt A T C T G A
MitImpact id MI.16139 MI.16140 MI.16141 MI.16142 MI.16143 MI.16144
Gene symbol MT-ND4L MT-ND4L MT-ND4L MT-ND4L MT-ND4L MT-ND4L
Respiratory Chain complex I I I I I I
Ensembl gene id ENSG00000212907 ENSG00000212907 ENSG00000212907 ENSG00000212907 ENSG00000212907 ENSG00000212907
Ensembl protein id ENSP00000354728 ENSP00000354728 ENSP00000354728 ENSP00000354728 ENSP00000354728 ENSP00000354728
Ensembl transcript id ENST00000361335 ENST00000361335 ENST00000361335 ENST00000361335 ENST00000361335 ENST00000361335
Uniprot name NU4LM_HUMAN NU4LM_HUMAN NU4LM_HUMAN NU4LM_HUMAN NU4LM_HUMAN NU4LM_HUMAN
Uniprot id P03901 P03901 P03901 P03901 P03901 P03901
Ncbi gene id 4539 4539 4539 4539 4539 4539
Ncbi protein id YP_003024034.1 YP_003024034.1 YP_003024034.1 YP_003024034.1 YP_003024034.1 YP_003024034.1
Gene position 211 211 211 212 212 212
AA position 71 71 71 71 71 71
AA ref A A A A A A
AA alt T S P V G E
Codon substitution Gca/Aca Gca/Tca Gca/Cca gCa/gTa gCa/gGa gCa/gAa
PhyloP 100V 0.06 0.06 0.06 5.13 5.13 5.13
PhastCons 100V 0.94 0.94 0.94 1 1 1
PolyPhen2 benign possibly_damaging probably_damaging possibly_damaging benign possibly_damaging
PolyPhen2 score 0.05 0.64 0.95 0.75 0.08 0.87
SIFT neutral neutral neutral neutral neutral neutral
SIFT score 0.09 0.25 0.07 0.27 0.51 0.26
FatHmm neutral neutral deleterious neutral neutral deleterious
FatHmm score -2.9 -2.15 -4.58 -1.64 -2.09 -3.8
FatHmmW neutral neutral neutral neutral neutral neutral
FatHmmW score 1.94 1.76 1.67 1.77 1.72 1.7
PROVEAN deleterious neutral deleterious deleterious deleterious deleterious
PROVEAN score -2.98 -2.47 -4.46 -3.53 -3.44 -4.46
MutationAssessor high impact medium impact high impact high impact low impact high impact
MutationAssessor score 3.99 2.92 4.54 4.2 1.84 4.54
EFIN SP neutral neutral damaging neutral neutral neutral
EFIN SP score 0.72 0.65 0.56 0.65 0.67 0.61
EFIN HD neutral neutral neutral neutral neutral neutral
EFIN HD score 0.6 0.39 0.29 0.29 0.46 0.36
CADD deleterious deleterious deleterious deleterious deleterious deleterious
CADD score 2.35 2.17 3.83 4.12 2.04 4.4
CADD phred 18.51 17.33 23.4 23.8 16.46 24.1
VEST pvalue 0.38 0.48 0.23 0.44 0.4 0.17
VEST FDR 0.5 0.55 0.45 0.55 0.5 0.45
PANTHER disease neutral disease disease neutral disease
PANTHER score 0.5 0.43 0.71 0.61 0.21 0.6
PhD-SNP disease disease disease disease disease disease
PhD-SNP score 0.89 0.94 0.96 0.92 0.92 0.95
SNAP disease disease disease disease neutral disease
SNAP score 0.59 0.58 0.75 0.63 0.44 0.71
Meta-SNP disease disease disease disease disease disease
Meta-SNP score 0.57 0.77 0.89 0.75 0.73 0.86
Meta-SNP RI 1 5 8 5 5 7
CAROL neutral neutral deleterious neutral neutral neutral
CAROL score 0.9 0.77 0.99 0.82 0.42 0.9
Condel deleterious neutral neutral neutral deleterious neutral
Condel score 0.52 0.31 0.06 0.26 0.72 0.2
COVEC WMV neutral . deleterious deleterious neutral deleterious
COVEC WMV score -2 0 2 1 -6 1
MtoolBox neutral deleterious deleterious deleterious neutral deleterious
MtoolBox DS 0.31 0.68 0.86 0.7 0.23 0.82
PolyPhen2 transf medium impact low impact low impact low impact medium impact low impact
PolyPhen2 transf score 0.37 -1.03 -1.97 -1.24 0.17 -1.56
SIFT_transf medium impact medium impact medium impact medium impact medium impact medium impact
SIFT transf score -0.35 -0.06 -0.41 -0.03 0.22 -0.04
MutationAssessor transf high impact medium impact high impact high impact medium impact high impact
MutationAssessor transf score 2.21 1.31 2.67 2.38 0.4 2.67
CHASM pvalue 0.7 0.64 0.58 0.69 0.73 0.51
CHASM FDR 0.85 0.8 0.8 0.85 0.85 0.8
APOGEE Neutral Neutral Pathogenic Pathogenic Pathogenic Pathogenic
APOGEE score 0.42 0.42 0.56 0.69 0.55 0.7
SNPDryad score 0.02 0.63 0.86 0.58 0.63 0.84
MutationTaster disease_causing disease_causing disease_causing disease_causing disease_causing disease_causing
MutationTaster score 0.97 0.94 0.99 1 1 1
DEOGEN2 score 0.18 0.18 0.4 0.18 0.17 0.4
Mitoclass.1 damaging neutral damaging damaging neutral damaging
dbSNP 153 id . . . . . .
ClinVar March2020 ClinSig . . . . . .
ClinVar March2020 ClnDBN . . . . . .
ClinVar March2020 ClnAllele id . . . . . .
ClinVar March2020 ClnDSDB . . . . . .
COSMIC 90 . . . . . .
CPD Frequency . . . . . .
MITOMAP Allele G10680A . . . . .
MITOMAP Phenotype LHON / synergistic combo 10680A + 12033G + 14258A . . . . .
MITOMAP Homoplasmy + . . . . .
MITOMAP Heteroplasmy - . . . . .
MITOMAP Status Reported / possibly synergistic . . . . .
MITOMAP NRef 4 . . . . .
EVmutation MT-ND4L_71A|72A:0.268189;78L:0.182623;89Y:0.106321;95L:0.099561;73V:0.086635;74G:0.080875;84T:0.07685;79V:0.07611;93L:0.069507 MT-ND4L_71A|72A:0.268189;78L:0.182623;89Y:0.106321;95L:0.099561;73V:0.086635;74G:0.080875;84T:0.07685;79V:0.07611;93L:0.069507 MT-ND4L_71A|72A:0.268189;78L:0.182623;89Y:0.106321;95L:0.099561;73V:0.086635;74G:0.080875;84T:0.07685;79V:0.07611;93L:0.069507 MT-ND4L_71A|72A:0.268189;78L:0.182623;89Y:0.106321;95L:0.099561;73V:0.086635;74G:0.080875;84T:0.07685;79V:0.07611;93L:0.069507 MT-ND4L_71A|72A:0.268189;78L:0.182623;89Y:0.106321;95L:0.099561;73V:0.086635;74G:0.080875;84T:0.07685;79V:0.07611;93L:0.069507 MT-ND4L_71A|72A:0.268189;78L:0.182623;89Y:0.106321;95L:0.099561;73V:0.086635;74G:0.080875;84T:0.07685;79V:0.07611;93L:0.069507
Site A InterP ND4L_71 ND4L_71 ND4L_71 ND4L_71 ND4L_71 ND4L_71
Site B InterP ND2_22;ND2_100;ND4_213;ND5_359;ND6_123;ND6_55;ND6_65;ND6_7;ND1_72;ND3_74;ND3_46;ND3_49;ND3_21;ND4_246;ND5_480;ND5_374;ND5_71;ND5_463;ND5_434;ND5_286 ND2_22;ND2_100;ND4_213;ND5_359;ND6_123;ND6_55;ND6_65;ND6_7;ND1_72;ND3_74;ND3_46;ND3_49;ND3_21;ND4_246;ND5_480;ND5_374;ND5_71;ND5_463;ND5_434;ND5_286 ND2_22;ND2_100;ND4_213;ND5_359;ND6_123;ND6_55;ND6_65;ND6_7;ND1_72;ND3_74;ND3_46;ND3_49;ND3_21;ND4_246;ND5_480;ND5_374;ND5_71;ND5_463;ND5_434;ND5_286 ND2_22;ND2_100;ND4_213;ND5_359;ND6_123;ND6_55;ND6_65;ND6_7;ND1_72;ND3_74;ND3_46;ND3_49;ND3_21;ND4_246;ND5_480;ND5_374;ND5_71;ND5_463;ND5_434;ND5_286 ND2_22;ND2_100;ND4_213;ND5_359;ND6_123;ND6_55;ND6_65;ND6_7;ND1_72;ND3_74;ND3_46;ND3_49;ND3_21;ND4_246;ND5_480;ND5_374;ND5_71;ND5_463;ND5_434;ND5_286 ND2_22;ND2_100;ND4_213;ND5_359;ND6_123;ND6_55;ND6_65;ND6_7;ND1_72;ND3_74;ND3_46;ND3_49;ND3_21;ND4_246;ND5_480;ND5_374;ND5_71;ND5_463;ND5_434;ND5_286
Covariation Score InterP mfDCA_23.18;mfDCA_20.68;mfDCA_56.89;mfDCA_40.06;mfDCA_24.34;mfDCA_23.58;mfDCA_20.28;mfDCA_18.1;cMI_47.69801;cMI_21.87539;cMI_17.95862;cMI_15.97979;cMI_13.66699;cMI_22.40959;cMI_57.53787;cMI_56.37417;cMI_51.73458;cMI_50.99827;cMI_50.4083;cMI_48.16303 mfDCA_23.18;mfDCA_20.68;mfDCA_56.89;mfDCA_40.06;mfDCA_24.34;mfDCA_23.58;mfDCA_20.28;mfDCA_18.1;cMI_47.69801;cMI_21.87539;cMI_17.95862;cMI_15.97979;cMI_13.66699;cMI_22.40959;cMI_57.53787;cMI_56.37417;cMI_51.73458;cMI_50.99827;cMI_50.4083;cMI_48.16303 mfDCA_23.18;mfDCA_20.68;mfDCA_56.89;mfDCA_40.06;mfDCA_24.34;mfDCA_23.58;mfDCA_20.28;mfDCA_18.1;cMI_47.69801;cMI_21.87539;cMI_17.95862;cMI_15.97979;cMI_13.66699;cMI_22.40959;cMI_57.53787;cMI_56.37417;cMI_51.73458;cMI_50.99827;cMI_50.4083;cMI_48.16303 mfDCA_23.18;mfDCA_20.68;mfDCA_56.89;mfDCA_40.06;mfDCA_24.34;mfDCA_23.58;mfDCA_20.28;mfDCA_18.1;cMI_47.69801;cMI_21.87539;cMI_17.95862;cMI_15.97979;cMI_13.66699;cMI_22.40959;cMI_57.53787;cMI_56.37417;cMI_51.73458;cMI_50.99827;cMI_50.4083;cMI_48.16303 mfDCA_23.18;mfDCA_20.68;mfDCA_56.89;mfDCA_40.06;mfDCA_24.34;mfDCA_23.58;mfDCA_20.28;mfDCA_18.1;cMI_47.69801;cMI_21.87539;cMI_17.95862;cMI_15.97979;cMI_13.66699;cMI_22.40959;cMI_57.53787;cMI_56.37417;cMI_51.73458;cMI_50.99827;cMI_50.4083;cMI_48.16303 mfDCA_23.18;mfDCA_20.68;mfDCA_56.89;mfDCA_40.06;mfDCA_24.34;mfDCA_23.58;mfDCA_20.28;mfDCA_18.1;cMI_47.69801;cMI_21.87539;cMI_17.95862;cMI_15.97979;cMI_13.66699;cMI_22.40959;cMI_57.53787;cMI_56.37417;cMI_51.73458;cMI_50.99827;cMI_50.4083;cMI_48.16303
Site A IntraP . . . . . .
Site B IntraP . . . . . .
Covariation Score IntraP . . . . . .
CPD AA ref . . . . . .
CPD AA alt . . . . . .
CPD Aln pos . . . . . .
CPD Species name . . . . . .
CPD RefSeq Protein ID . . . . . .
CPD Ncbi Taxon id . . . . . .
DDG intra . . . . . .
DDG intra interface . . . . . .
DDG inter MT-ND4L:MT-ND6:5lc5:K:J:A71T:T71K:0.0875:-0.234632105:0.349819183;MT-ND4L:MT-ND6:5lc5:K:J:A71T:T71S:0.2707:-0.234632105:0.545650125;MT-ND4L:MT-ND6:5lc5:K:J:A71T:T71M:0.03951:-0.234632105:0.272438824;MT-ND4L:MT-ND6:5lc5:K:J:A71T:T71P:0.23344:-0.234632105:0.521499276;MT-ND4L:MT-ND6:5lc5:K:J:A71T:T71A:0.22846:-0.234632105:0.462280273;MT-ND4L:MT-ND6:5ldw:K:J:A71T:T71K:0.06819:-0.196310431:0.330052197;MT-ND4L:MT-ND6:5ldw:K:J:A71T:T71S:0.19323:-0.196310431:0.506391168;MT-ND4L:MT-ND6:5ldw:K:J:A71T:T71M:0.03124:-0.196310431:0.330003351;MT-ND4L:MT-ND6:5ldw:K:J:A71T:T71P:0.29108:-0.196310431:0.499993145;MT-ND4L:MT-ND6:5ldw:K:J:A71T:T71A:0.15385:-0.196310431:0.443702698;MT-ND4L:MT-ND6:5ldx:K:J:A71T:T71K:-0.18584:-0.633990109:0.38250047;MT-ND4L:MT-ND6:5ldx:K:J:A71T:T71S:-0.07485:-0.633990109:0.496649563;MT-ND4L:MT-ND6:5ldx:K:J:A71T:T71M:-0.11459:-0.633990109:0.38127023;MT-ND4L:MT-ND6:5ldx:K:J:A71T:T71P:-0.24866:-0.633990109:0.374649823;MT-ND4L:MT-ND6:5ldx:K:J:A71T:T71A:-0.21315:-0.633990109:0.337310016 MT-ND4L:MT-ND6:5lc5:K:J:A71S:T71K:0.05905:0.0984386429:0.349819183;MT-ND4L:MT-ND6:5lc5:K:J:A71S:T71S:0.60418:0.0984386429:0.545650125;MT-ND4L:MT-ND6:5lc5:K:J:A71S:T71M:0.33742:0.0984386429:0.272438824;MT-ND4L:MT-ND6:5lc5:K:J:A71S:T71A:0.55369:0.0984386429:0.462280273;MT-ND4L:MT-ND6:5lc5:K:J:A71S:T71P:0.71729:0.0984386429:0.521499276;MT-ND4L:MT-ND6:5ldw:K:J:A71S:T71K:0.41987:0.0573913567:0.330052197;MT-ND4L:MT-ND6:5ldw:K:J:A71S:T71S:0.6229:0.0573913567:0.506391168;MT-ND4L:MT-ND6:5ldw:K:J:A71S:T71M:0.44635:0.0573913567:0.330003351;MT-ND4L:MT-ND6:5ldw:K:J:A71S:T71A:0.52161:0.0573913567:0.443702698;MT-ND4L:MT-ND6:5ldw:K:J:A71S:T71P:0.57588:0.0573913567:0.499993145;MT-ND4L:MT-ND6:5ldx:K:J:A71S:T71K:-0.23114:-0.592829108:0.38250047;MT-ND4L:MT-ND6:5ldx:K:J:A71S:T71S:-0.13127:-0.592829108:0.496649563;MT-ND4L:MT-ND6:5ldx:K:J:A71S:T71M:-0.24956:-0.592829108:0.38127023;MT-ND4L:MT-ND6:5ldx:K:J:A71S:T71A:-0.28049:-0.592829108:0.337310016;MT-ND4L:MT-ND6:5ldx:K:J:A71S:T71P:-0.23925:-0.592829108:0.374649823 MT-ND4L:MT-ND6:5lc5:K:J:A71P:T71M:0.44657:0.18503876:0.272438824;MT-ND4L:MT-ND6:5lc5:K:J:A71P:T71P:0.73229:0.18503876:0.521499276;MT-ND4L:MT-ND6:5lc5:K:J:A71P:T71S:0.67734:0.18503876:0.545650125;MT-ND4L:MT-ND6:5lc5:K:J:A71P:T71A:0.64721:0.18503876:0.462280273;MT-ND4L:MT-ND6:5lc5:K:J:A71P:T71K:0.53301:0.18503876:0.349819183;MT-ND4L:MT-ND6:5ldw:K:J:A71P:T71M:0.41534:0.117359921:0.330003351;MT-ND4L:MT-ND6:5ldw:K:J:A71P:T71P:0.6621:0.117359921:0.499993145;MT-ND4L:MT-ND6:5ldw:K:J:A71P:T71S:0.59015:0.117359921:0.506391168;MT-ND4L:MT-ND6:5ldw:K:J:A71P:T71A:0.51735:0.117359921:0.443702698;MT-ND4L:MT-ND6:5ldw:K:J:A71P:T71K:0.44585:0.117359921:0.330052197;MT-ND4L:MT-ND6:5ldx:K:J:A71P:T71M:0.63739:0.28040123:0.38127023;MT-ND4L:MT-ND6:5ldx:K:J:A71P:T71P:0.58679:0.28040123:0.374649823;MT-ND4L:MT-ND6:5ldx:K:J:A71P:T71S:0.75052:0.28040123:0.496649563;MT-ND4L:MT-ND6:5ldx:K:J:A71P:T71A:0.62069:0.28040123:0.337310016;MT-ND4L:MT-ND6:5ldx:K:J:A71P:T71K:0.64698:0.28040123:0.38250047 MT-ND4L:MT-ND6:5lc5:K:J:A71V:T71P:-0.31524:-0.85572207:0.521499276;MT-ND4L:MT-ND6:5lc5:K:J:A71V:T71K:-0.51587:-0.85572207:0.349819183;MT-ND4L:MT-ND6:5lc5:K:J:A71V:T71A:-0.39334:-0.85572207:0.462280273;MT-ND4L:MT-ND6:5lc5:K:J:A71V:T71M:-0.5836:-0.85572207:0.272438824;MT-ND4L:MT-ND6:5lc5:K:J:A71V:T71S:-0.27984:-0.85572207:0.545650125;MT-ND4L:MT-ND6:5ldw:K:J:A71V:T71P:-0.07942:-0.60515976:0.499993145;MT-ND4L:MT-ND6:5ldw:K:J:A71V:T71K:-0.3223:-0.60515976:0.330052197;MT-ND4L:MT-ND6:5ldw:K:J:A71V:T71A:-0.20614:-0.60515976:0.443702698;MT-ND4L:MT-ND6:5ldw:K:J:A71V:T71M:-0.33601:-0.60515976:0.330003351;MT-ND4L:MT-ND6:5ldw:K:J:A71V:T71S:-0.1642:-0.60515976:0.506391168;MT-ND4L:MT-ND6:5ldx:K:J:A71V:T71P:-0.80963:-1.18210983:0.374649823;MT-ND4L:MT-ND6:5ldx:K:J:A71V:T71K:-0.76177:-1.18210983:0.38250047;MT-ND4L:MT-ND6:5ldx:K:J:A71V:T71A:-0.84686:-1.18210983:0.337310016;MT-ND4L:MT-ND6:5ldx:K:J:A71V:T71M:-0.81334:-1.18210983:0.38127023;MT-ND4L:MT-ND6:5ldx:K:J:A71V:T71S:-0.68776:-1.18210983:0.496649563 MT-ND4L:MT-ND6:5lc5:K:J:A71G:T71M:0.57344:0.47907868:0.272438824;MT-ND4L:MT-ND6:5lc5:K:J:A71G:T71P:0.85927:0.47907868:0.521499276;MT-ND4L:MT-ND6:5lc5:K:J:A71G:T71K:0.72669:0.47907868:0.349819183;MT-ND4L:MT-ND6:5lc5:K:J:A71G:T71S:0.92094:0.47907868:0.545650125;MT-ND4L:MT-ND6:5lc5:K:J:A71G:T71A:0.80792:0.47907868:0.462280273;MT-ND4L:MT-ND6:5ldw:K:J:A71G:T71M:0.5724:0.278140247:0.330003351;MT-ND4L:MT-ND6:5ldw:K:J:A71G:T71P:0.7762:0.278140247:0.499993145;MT-ND4L:MT-ND6:5ldw:K:J:A71G:T71K:0.58838:0.278140247:0.330052197;MT-ND4L:MT-ND6:5ldw:K:J:A71G:T71S:0.74623:0.278140247:0.506391168;MT-ND4L:MT-ND6:5ldw:K:J:A71G:T71A:0.67433:0.278140247:0.443702698;MT-ND4L:MT-ND6:5ldx:K:J:A71G:T71M:0.99472:0.612800598:0.38127023;MT-ND4L:MT-ND6:5ldx:K:J:A71G:T71P:0.9902:0.612800598:0.374649823;MT-ND4L:MT-ND6:5ldx:K:J:A71G:T71K:1.02073:0.612800598:0.38250047;MT-ND4L:MT-ND6:5ldx:K:J:A71G:T71S:1.10989:0.612800598:0.496649563;MT-ND4L:MT-ND6:5ldx:K:J:A71G:T71A:0.95238:0.612800598:0.337310016 MT-ND4L:MT-ND6:5lc5:K:J:A71E:T71K:1.20206:1.10695875:0.349819183;MT-ND4L:MT-ND6:5lc5:K:J:A71E:T71P:1.48224:1.10695875:0.521499276;MT-ND4L:MT-ND6:5lc5:K:J:A71E:T71S:1.48238:1.10695875:0.545650125;MT-ND4L:MT-ND6:5lc5:K:J:A71E:T71M:1.21359:1.10695875:0.272438824;MT-ND4L:MT-ND6:5lc5:K:J:A71E:T71A:1.59815:1.10695875:0.462280273;MT-ND4L:MT-ND6:5ldw:K:J:A71E:T71K:0.92579:0.799778759:0.330052197;MT-ND4L:MT-ND6:5ldw:K:J:A71E:T71P:1.45455:0.799778759:0.499993145;MT-ND4L:MT-ND6:5ldw:K:J:A71E:T71S:1.26368:0.799778759:0.506391168;MT-ND4L:MT-ND6:5ldw:K:J:A71E:T71M:1.13745:0.799778759:0.330003351;MT-ND4L:MT-ND6:5ldw:K:J:A71E:T71A:1.18736:0.799778759:0.443702698;MT-ND4L:MT-ND6:5ldx:K:J:A71E:T71K:1.89528:1.14978099:0.38250047;MT-ND4L:MT-ND6:5ldx:K:J:A71E:T71P:1.84041:1.14978099:0.374649823;MT-ND4L:MT-ND6:5ldx:K:J:A71E:T71S:1.90631:1.14978099:0.496649563;MT-ND4L:MT-ND6:5ldx:K:J:A71E:T71M:1.85701:1.14978099:0.38127023;MT-ND4L:MT-ND6:5ldx:K:J:A71E:T71A:1.63535:1.14978099:0.337310016
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