14462 (G > T)

General info

Chr
chrM
Start
14462
End
14462
Ref
G
Alt
T
Mitimpact ID
MI.23744
Gene symbol
MT-ND6
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
T
AA alt
K
Codon substitution
aCa/aAa
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Powered by MitoWheel

Conservation

PhyloP 100v
-12.43 Conservation Score
PhastCons 100v
0 Conservation Score

Pathogenicity predictors

PolyPhen2
Possibly damaging Score and details of the predictor
SIFT
Neutral Score and details of the predictor
FatHmm
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
.
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
Pathogenic Score and details of the predictor

Pathogenicity meta-predictors

APOGEE
Neutral Score and details of the meta-predictor
CAROL
Neutral Score and details of the meta-predictor
Condel
Neutral Score and details of the meta-predictor
COVEC WMV
. 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 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
.

14462 (G > A)

General info

Chr
chrM
Start
14462
End
14462
Ref
G
Alt
A
Mitimpact ID
MI.23745
Gene symbol
MT-ND6
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
T
AA alt
M
Codon substitution
aCa/aTa
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
-12.43 Conservation Score
PhastCons 100v
0 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
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
.
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
Pathogenic Score and details of the predictor

Pathogenicity meta-predictors

APOGEE
Neutral Score and details of the meta-predictor
CAROL
Neutral Score and details of the meta-predictor
Condel
Deleterious Score and details of the meta-predictor
COVEC WMV
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 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
.

14463 (T > G)

General info

Chr
chrM
Start
14463
End
14463
Ref
T
Alt
G
Mitimpact ID
MI.23746
Gene symbol
MT-ND6
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
T
AA alt
P
Codon substitution
Aca/Cca
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
2.02 Conservation Score
PhastCons 100v
0.06 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
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
.
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
Pathogenic Score and details of the predictor

Pathogenicity meta-predictors

APOGEE
Neutral Score and details of the meta-predictor
CAROL
Neutral Score and details of the meta-predictor
Condel
Neutral Score and details of the meta-predictor
COVEC WMV
. 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
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
.

14463 (T > C)

General info

Chr
chrM
Start
14463
End
14463
Ref
T
Alt
C
Mitimpact ID
MI.23747
Gene symbol
MT-ND6
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
T
AA alt
A
Codon substitution
Aca/Gca
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
2.02 Conservation Score
PhastCons 100v
0.06 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
Neutral impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Neutral Score and details of the predictor
MutationTaster
.
CADD
Neutral Score and details of the predictor
SNAP
Neutral Score and details of the predictor
MitoClass 1
Neutral Score and details of the predictor
SNPDryad
Neutral Score and details of the predictor

Pathogenicity meta-predictors

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

Databases of Phenotypes

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

Residue interaction

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

Compensated Pathogenic Deviations

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

14463 (T > A)

General info

Chr
chrM
Start
14463
End
14463
Ref
T
Alt
A
Mitimpact ID
MI.23748
Gene symbol
MT-ND6
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
T
AA alt
S
Codon substitution
Aca/Tca
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
2.02 Conservation Score
PhastCons 100v
0.06 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
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
.
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
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
Neutral 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 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
.
~ 14462 (G/T) 14462 (G/A) 14463 (T/G) 14463 (T/C) 14463 (T/A)
~ 14462 (aCa/aAa) 14462 (aCa/aTa) 14463 (Aca/Cca) 14463 (Aca/Gca) 14463 (Aca/Tca)
Chr chrM chrM chrM chrM chrM
Start 14462 14462 14463 14463 14463
End 14462 14462 14463 14463 14463
Ref G G T T T
Alt T A G C A
MitImpact id MI.23744 MI.23745 MI.23746 MI.23747 MI.23748
Gene symbol MT-ND6 MT-ND6 MT-ND6 MT-ND6 MT-ND6
Respiratory Chain complex I I I I I
Ensembl gene id ENSG00000198695 ENSG00000198695 ENSG00000198695 ENSG00000198695 ENSG00000198695
Ensembl protein id ENSP00000354665 ENSP00000354665 ENSP00000354665 ENSP00000354665 ENSP00000354665
Ensembl transcript id ENST00000361681 ENST00000361681 ENST00000361681 ENST00000361681 ENST00000361681
Uniprot name NU6M_HUMAN NU6M_HUMAN NU6M_HUMAN NU6M_HUMAN NU6M_HUMAN
Uniprot id P03923 P03923 P03923 P03923 P03923
Ncbi gene id 4541 4541 4541 4541 4541
Ncbi protein id YP_003024037.1 YP_003024037.1 YP_003024037.1 YP_003024037.1 YP_003024037.1
Gene position 212 212 211 211 211
AA position 71 71 71 71 71
AA ref T T T T T
AA alt K M P A S
Codon substitution aCa/aAa aCa/aTa Aca/Cca Aca/Gca Aca/Tca
PhyloP 100V -12.43 -12.43 2.02 2.02 2.02
PhastCons 100V 0 0 0.06 0.06 0.06
PolyPhen2 possibly_damaging benign possibly_damaging benign benign
PolyPhen2 score 0.58 0.26 0.82 0.02 0.37
SIFT neutral neutral neutral neutral neutral
SIFT score 0.27 0.21 0.16 1 0.77
FatHmm deleterious neutral deleterious neutral neutral
FatHmm score -3.01 -1.45 -3.05 -0.24 0.28
FatHmmW neutral neutral neutral neutral neutral
FatHmmW score 2.21 2.24 2.21 2.3 2.35
PROVEAN deleterious deleterious deleterious deleterious deleterious
PROVEAN score -5.29 -5.17 -5.29 -3.79 -3.32
MutationAssessor medium impact medium impact medium impact neutral impact medium impact
MutationAssessor score 3.33 3.33 3.33 0.23 2.23
EFIN SP neutral neutral neutral neutral neutral
EFIN SP score 0.69 0.66 0.7 0.91 0.81
EFIN HD neutral neutral neutral neutral neutral
EFIN HD score 0.33 0.38 0.28 0.93 0.72
CADD deleterious deleterious deleterious neutral deleterious
CADD score 3.66 1.85 3.63 -0.05 1.9
CADD phred 23.2 15.3 23.2 2.09 15.57
VEST pvalue 0.16 0.26 0.15 0.32 0.37
VEST FDR 0.45 0.45 0.4 0.5 0.5
PANTHER neutral disease disease neutral neutral
PANTHER score 0.46 0.61 0.58 0.15 0.2
PhD-SNP disease disease disease neutral disease
PhD-SNP score 0.87 0.73 0.91 0.18 0.64
SNAP disease disease disease neutral neutral
SNAP score 0.73 0.67 0.73 0.25 0.33
Meta-SNP disease disease disease neutral neutral
Meta-SNP score 0.82 0.75 0.84 0.28 0.48
Meta-SNP RI 6 5 7 4 0
CAROL neutral neutral neutral neutral neutral
CAROL score 0.73 0.75 0.91 0.01 0.26
Condel neutral deleterious neutral deleterious deleterious
Condel score 0.35 0.48 0.17 0.99 0.7
COVEC WMV . neutral . neutral neutral
COVEC WMV score 0 -3 0 -6 -3
MtoolBox deleterious neutral deleterious neutral deleterious
MtoolBox DS 0.68 0.42 0.82 0.13 0.45
PolyPhen2 transf medium impact medium impact low impact medium impact medium impact
PolyPhen2 transf score -0.92 -0.38 -1.4 0.75 -0.58
SIFT_transf medium impact medium impact medium impact high impact medium impact
SIFT transf score -0.03 -0.11 -0.19 1.87 0.5
MutationAssessor transf medium impact medium impact medium impact medium impact medium impact
MutationAssessor transf score 1.65 1.65 1.65 -0.95 0.73
CHASM pvalue 0.87 0.86 0.77 0.62 0.79
CHASM FDR 0.9 0.9 0.85 0.8 0.85
APOGEE Neutral Neutral Neutral Neutral Neutral
APOGEE score 0.37 0.38 0.45 0.43 0.31
SNPDryad score 0.94 0.9 0.94 0.65 0.68
MutationTaster . . . . .
MutationTaster score . . . . .
DEOGEN2 score 0.73 0.6 0.73 0.52 0.52
Mitoclass.1 damaging damaging damaging neutral neutral
dbSNP 153 id . . . . .
ClinVar March2020 ClinSig . . . . .
ClinVar March2020 ClnDBN . . . . .
ClinVar March2020 ClnAllele id . . . . .
ClinVar March2020 ClnDSDB . . . . .
COSMIC 90 . . . . .
CPD Frequency . . . . .
MITOMAP Allele . . . . .
MITOMAP Phenotype . . . . .
MITOMAP Homoplasmy . . . . .
MITOMAP Heteroplasmy . . . . .
MITOMAP Status . . . . .
MITOMAP NRef . . . . .
EVmutation MT-ND6_71T|77E:0.191034;76E:0.185333;75I:0.115309;79P:0.072124;72A:0.066189 MT-ND6_71T|77E:0.191034;76E:0.185333;75I:0.115309;79P:0.072124;72A:0.066189 MT-ND6_71T|77E:0.191034;76E:0.185333;75I:0.115309;79P:0.072124;72A:0.066189 MT-ND6_71T|77E:0.191034;76E:0.185333;75I:0.115309;79P:0.072124;72A:0.066189 MT-ND6_71T|77E:0.191034;76E:0.185333;75I:0.115309;79P:0.072124;72A:0.066189
Site A InterP ND6_71 ND6_71 ND6_71 ND6_71 ND6_71
Site B InterP ND1_150;ND4L_58 ND1_150;ND4L_58 ND1_150;ND4L_58 ND1_150;ND4L_58 ND1_150;ND4L_58
Covariation Score InterP mfDCA_22.42;mfDCA_18.95 mfDCA_22.42;mfDCA_18.95 mfDCA_22.42;mfDCA_18.95 mfDCA_22.42;mfDCA_18.95 mfDCA_22.42;mfDCA_18.95
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-ND6:MT-ND4L:5lc5:J:K:T71K:A71E:1.20206:0.349819183:1.10695875;MT-ND6:MT-ND4L:5lc5:J:K:T71K:A71T:0.0875:0.349819183:-0.234632105;MT-ND6:MT-ND4L:5lc5:J:K:T71K:A71V:-0.51587:0.349819183:-0.85572207;MT-ND6:MT-ND4L:5lc5:J:K:T71K:A71S:0.05905:0.349819183:0.0984386429;MT-ND6:MT-ND4L:5lc5:J:K:T71K:A71G:0.72669:0.349819183:0.47907868;MT-ND6:MT-ND4L:5lc5:J:K:T71K:A71P:0.53301:0.349819183:0.18503876;MT-ND6:MT-ND4L:5ldw:J:K:T71K:A71E:0.92579:0.330052197:0.799778759;MT-ND6:MT-ND4L:5ldw:J:K:T71K:A71T:0.06819:0.330052197:-0.196310431;MT-ND6:MT-ND4L:5ldw:J:K:T71K:A71V:-0.3223:0.330052197:-0.60515976;MT-ND6:MT-ND4L:5ldw:J:K:T71K:A71S:0.41987:0.330052197:0.0573913567;MT-ND6:MT-ND4L:5ldw:J:K:T71K:A71G:0.58838:0.330052197:0.278140247;MT-ND6:MT-ND4L:5ldw:J:K:T71K:A71P:0.44585:0.330052197:0.117359921;MT-ND6:MT-ND4L:5ldx:J:K:T71K:A71E:1.89528:0.38250047:1.14978099;MT-ND6:MT-ND4L:5ldx:J:K:T71K:A71T:-0.18584:0.38250047:-0.633990109;MT-ND6:MT-ND4L:5ldx:J:K:T71K:A71V:-0.76177:0.38250047:-1.18210983;MT-ND6:MT-ND4L:5ldx:J:K:T71K:A71S:-0.23114:0.38250047:-0.592829108;MT-ND6:MT-ND4L:5ldx:J:K:T71K:A71G:1.02073:0.38250047:0.612800598;MT-ND6:MT-ND4L:5ldx:J:K:T71K:A71P:0.64698:0.38250047:0.28040123 MT-ND6:MT-ND4L:5lc5:J:K:T71M:A71G:0.57344:0.272438824:0.47907868;MT-ND6:MT-ND4L:5lc5:J:K:T71M:A71T:0.03951:0.272438824:-0.234632105;MT-ND6:MT-ND4L:5lc5:J:K:T71M:A71P:0.44657:0.272438824:0.18503876;MT-ND6:MT-ND4L:5lc5:J:K:T71M:A71S:0.33742:0.272438824:0.0984386429;MT-ND6:MT-ND4L:5lc5:J:K:T71M:A71V:-0.5836:0.272438824:-0.85572207;MT-ND6:MT-ND4L:5lc5:J:K:T71M:A71E:1.21359:0.272438824:1.10695875;MT-ND6:MT-ND4L:5ldw:J:K:T71M:A71G:0.5724:0.330003351:0.278140247;MT-ND6:MT-ND4L:5ldw:J:K:T71M:A71T:0.03124:0.330003351:-0.196310431;MT-ND6:MT-ND4L:5ldw:J:K:T71M:A71P:0.41534:0.330003351:0.117359921;MT-ND6:MT-ND4L:5ldw:J:K:T71M:A71S:0.44635:0.330003351:0.0573913567;MT-ND6:MT-ND4L:5ldw:J:K:T71M:A71V:-0.33601:0.330003351:-0.60515976;MT-ND6:MT-ND4L:5ldw:J:K:T71M:A71E:1.13745:0.330003351:0.799778759;MT-ND6:MT-ND4L:5ldx:J:K:T71M:A71G:0.99472:0.38127023:0.612800598;MT-ND6:MT-ND4L:5ldx:J:K:T71M:A71T:-0.11459:0.38127023:-0.633990109;MT-ND6:MT-ND4L:5ldx:J:K:T71M:A71P:0.63739:0.38127023:0.28040123;MT-ND6:MT-ND4L:5ldx:J:K:T71M:A71S:-0.24956:0.38127023:-0.592829108;MT-ND6:MT-ND4L:5ldx:J:K:T71M:A71V:-0.81334:0.38127023:-1.18210983;MT-ND6:MT-ND4L:5ldx:J:K:T71M:A71E:1.85701:0.38127023:1.14978099 MT-ND6:MT-ND4L:5lc5:J:K:T71P:A71G:0.85927:0.521499276:0.47907868;MT-ND6:MT-ND4L:5lc5:J:K:T71P:A71V:-0.31524:0.521499276:-0.85572207;MT-ND6:MT-ND4L:5lc5:J:K:T71P:A71E:1.48224:0.521499276:1.10695875;MT-ND6:MT-ND4L:5lc5:J:K:T71P:A71P:0.73229:0.521499276:0.18503876;MT-ND6:MT-ND4L:5lc5:J:K:T71P:A71T:0.23344:0.521499276:-0.234632105;MT-ND6:MT-ND4L:5lc5:J:K:T71P:A71S:0.71729:0.521499276:0.0984386429;MT-ND6:MT-ND4L:5ldw:J:K:T71P:A71G:0.7762:0.499993145:0.278140247;MT-ND6:MT-ND4L:5ldw:J:K:T71P:A71V:-0.07942:0.499993145:-0.60515976;MT-ND6:MT-ND4L:5ldw:J:K:T71P:A71E:1.45455:0.499993145:0.799778759;MT-ND6:MT-ND4L:5ldw:J:K:T71P:A71P:0.6621:0.499993145:0.117359921;MT-ND6:MT-ND4L:5ldw:J:K:T71P:A71T:0.29108:0.499993145:-0.196310431;MT-ND6:MT-ND4L:5ldw:J:K:T71P:A71S:0.57588:0.499993145:0.0573913567;MT-ND6:MT-ND4L:5ldx:J:K:T71P:A71G:0.9902:0.374649823:0.612800598;MT-ND6:MT-ND4L:5ldx:J:K:T71P:A71V:-0.80963:0.374649823:-1.18210983;MT-ND6:MT-ND4L:5ldx:J:K:T71P:A71E:1.84041:0.374649823:1.14978099;MT-ND6:MT-ND4L:5ldx:J:K:T71P:A71P:0.58679:0.374649823:0.28040123;MT-ND6:MT-ND4L:5ldx:J:K:T71P:A71T:-0.24866:0.374649823:-0.633990109;MT-ND6:MT-ND4L:5ldx:J:K:T71P:A71S:-0.23925:0.374649823:-0.592829108 MT-ND6:MT-ND4L:5lc5:J:K:T71A:A71V:-0.39334:0.462280273:-0.85572207;MT-ND6:MT-ND4L:5lc5:J:K:T71A:A71P:0.64721:0.462280273:0.18503876;MT-ND6:MT-ND4L:5lc5:J:K:T71A:A71S:0.55369:0.462280273:0.0984386429;MT-ND6:MT-ND4L:5lc5:J:K:T71A:A71T:0.22846:0.462280273:-0.234632105;MT-ND6:MT-ND4L:5lc5:J:K:T71A:A71G:0.80792:0.462280273:0.47907868;MT-ND6:MT-ND4L:5lc5:J:K:T71A:A71E:1.59815:0.462280273:1.10695875;MT-ND6:MT-ND4L:5ldw:J:K:T71A:A71V:-0.20614:0.443702698:-0.60515976;MT-ND6:MT-ND4L:5ldw:J:K:T71A:A71P:0.51735:0.443702698:0.117359921;MT-ND6:MT-ND4L:5ldw:J:K:T71A:A71S:0.52161:0.443702698:0.0573913567;MT-ND6:MT-ND4L:5ldw:J:K:T71A:A71T:0.15385:0.443702698:-0.196310431;MT-ND6:MT-ND4L:5ldw:J:K:T71A:A71G:0.67433:0.443702698:0.278140247;MT-ND6:MT-ND4L:5ldw:J:K:T71A:A71E:1.18736:0.443702698:0.799778759;MT-ND6:MT-ND4L:5ldx:J:K:T71A:A71V:-0.84686:0.337310016:-1.18210983;MT-ND6:MT-ND4L:5ldx:J:K:T71A:A71P:0.62069:0.337310016:0.28040123;MT-ND6:MT-ND4L:5ldx:J:K:T71A:A71S:-0.28049:0.337310016:-0.592829108;MT-ND6:MT-ND4L:5ldx:J:K:T71A:A71T:-0.21315:0.337310016:-0.633990109;MT-ND6:MT-ND4L:5ldx:J:K:T71A:A71G:0.95238:0.337310016:0.612800598;MT-ND6:MT-ND4L:5ldx:J:K:T71A:A71E:1.63535:0.337310016:1.14978099 MT-ND6:MT-ND4L:5lc5:J:K:T71S:A71T:0.2707:0.545650125:-0.234632105;MT-ND6:MT-ND4L:5lc5:J:K:T71S:A71E:1.48238:0.545650125:1.10695875;MT-ND6:MT-ND4L:5lc5:J:K:T71S:A71S:0.60418:0.545650125:0.0984386429;MT-ND6:MT-ND4L:5lc5:J:K:T71S:A71P:0.67734:0.545650125:0.18503876;MT-ND6:MT-ND4L:5lc5:J:K:T71S:A71G:0.92094:0.545650125:0.47907868;MT-ND6:MT-ND4L:5lc5:J:K:T71S:A71V:-0.27984:0.545650125:-0.85572207;MT-ND6:MT-ND4L:5ldw:J:K:T71S:A71T:0.19323:0.506391168:-0.196310431;MT-ND6:MT-ND4L:5ldw:J:K:T71S:A71E:1.26368:0.506391168:0.799778759;MT-ND6:MT-ND4L:5ldw:J:K:T71S:A71S:0.6229:0.506391168:0.0573913567;MT-ND6:MT-ND4L:5ldw:J:K:T71S:A71P:0.59015:0.506391168:0.117359921;MT-ND6:MT-ND4L:5ldw:J:K:T71S:A71G:0.74623:0.506391168:0.278140247;MT-ND6:MT-ND4L:5ldw:J:K:T71S:A71V:-0.1642:0.506391168:-0.60515976;MT-ND6:MT-ND4L:5ldx:J:K:T71S:A71T:-0.07485:0.496649563:-0.633990109;MT-ND6:MT-ND4L:5ldx:J:K:T71S:A71E:1.90631:0.496649563:1.14978099;MT-ND6:MT-ND4L:5ldx:J:K:T71S:A71S:-0.13127:0.496649563:-0.592829108;MT-ND6:MT-ND4L:5ldx:J:K:T71S:A71P:0.75052:0.496649563:0.28040123;MT-ND6:MT-ND4L:5ldx:J:K:T71S:A71G:1.10989:0.496649563:0.612800598;MT-ND6:MT-ND4L:5ldx:J:K:T71S:A71V:-0.68776:0.496649563:-1.18210983
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