3496 (G > A)

General info

Chr
chrM
Start
3496
End
3496
Ref
G
Alt
A
Mitimpact ID
MI.11153
Gene symbol
MT-ND1
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
190
AA pos
64
AA ref
A
AA alt
T
Codon substitution
Gcc/Acc
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Powered by MitoWheel

Conservation

PhyloP 100v
-2.80228 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
SIFT4G
Tolerated Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Neutral Score and details of the predictor
Mutation Assessor
Neutral impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Neutral Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Neutral Score and details of the predictor
SNAP
Neutral Score and details of the predictor
MitoClass 1
Neutral Score and details of the predictor
SNPDryad
Neutral Score and details of the predictor

Pathogenicity meta-predictors

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

Cancer-specific predictors

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

Databases of Phenotypes

ClinVar July2022 CLNSIG
.
ClinVar July2022 CLNDN
.
ClinVar July2022 Variation ID
ClinVar July2022 CLNDISDB
.
MITOMAP Allele
.
MITOMAP Disease Het/Hom
.
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease GenBank Freq
.
MITOMAP Disease GenBank Seqs
.
MITOMAP Disease GenBank Curated refs
.
MITOMAP General GenBank Freq
0.00013
MITOMAP General GenBank Seqs
8
MITOMAP General GenBank Curated refs
1
Gnomad31 filter
Pass
Gnomad31 AC hom
3
Gnomad31 AC het
1
Gnomad31 AF hom
0.000053165095
Gnomad31 AF het
0.000017721699
Gnomad31 AN
56428
HelixMTdb AC hom
6.0
HelixMTdb AF hom
3.06149e-05
HelixMTdb AC het
1.0
HelixMTdb AF het
5.1024836e-06
HelixMTdb mean ARF
0.86726
HelixMTdb max ARF
0.86726
COSMIC 90
COSM5653110
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
.

3496 (G > C)

General info

Chr
chrM
Start
3496
End
3496
Ref
G
Alt
C
Mitimpact ID
MI.11155
Gene symbol
MT-ND1
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
190
AA pos
64
AA ref
A
AA alt
P
Codon substitution
Gcc/Ccc
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
-2.80228 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
SIFT4G
Tolerated Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Neutral Score and details of the predictor
Mutation Assessor
Low impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Disease Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Neutral Score and details of the predictor
SNAP
Neutral Score and details of the predictor
MitoClass 1
Neutral Score and details of the predictor
SNPDryad
Neutral Score and details of the predictor

Pathogenicity meta-predictors

APOGEE1
Neutral Score and details of the meta-predictor
APOGEE2
Vus Score and details of the meta-predictor
CAROL
Neutral Score and details of the meta-predictor
Condel
Deleterious Score and details of the meta-predictor
COVEC WMV
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 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
Npg
Gnomad31 AC hom
0
Gnomad31 AC het
0
Gnomad31 AF hom
0
Gnomad31 AF het
0
Gnomad31 AN
56431
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
3496
End
3496
Ref
G
Alt
T
Mitimpact ID
MI.11154
Gene symbol
MT-ND1
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
190
AA pos
64
AA ref
A
AA alt
S
Codon substitution
Gcc/Tcc
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
-2.80228 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
SIFT4G
Tolerated Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Neutral Score and details of the predictor
Mutation Assessor
Neutral impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Neutral Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Neutral Score and details of the predictor
SNAP
Neutral Score and details of the predictor
MitoClass 1
Neutral Score and details of the predictor
SNPDryad
Neutral Score and details of the predictor

Pathogenicity meta-predictors

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

Cancer-specific predictors

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

Databases of Phenotypes

ClinVar July2022 CLNSIG
.
ClinVar July2022 CLNDN
.
ClinVar July2022 Variation ID
ClinVar July2022 CLNDISDB
.
MITOMAP Allele
MITOMAP Disease Het/Hom
+/-
MITOMAP Disease Clinical info
Lhon
MITOMAP Disease Status
Reported / secondary
MITOMAP Disease GenBank Freq
0.019%(0.000%)
MITOMAP Disease GenBank Seqs
11 (0)
MITOMAP Disease GenBank Curated refs
3
MITOMAP General GenBank Freq
0.00019
MITOMAP General GenBank Seqs
11
MITOMAP General GenBank Curated refs
4
Gnomad31 filter
Npg
Gnomad31 AC hom
0
Gnomad31 AC het
0
Gnomad31 AF hom
0
Gnomad31 AF het
0
Gnomad31 AN
56429
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
.

3497 (C > A)

General info

Chr
chrM
Start
3497
End
3497
Ref
C
Alt
A
Mitimpact ID
MI.11157
Gene symbol
MT-ND1
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
191
AA pos
64
AA ref
A
AA alt
D
Codon substitution
gCc/gAc
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
-0.943071 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
SIFT4G
Tolerated Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Neutral Score and details of the predictor
Mutation Assessor
Low impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Disease Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Neutral Score and details of the predictor
SNAP
Neutral Score and details of the predictor
MitoClass 1
Neutral Score and details of the predictor
SNPDryad
Neutral Score and details of the predictor

Pathogenicity meta-predictors

APOGEE1
Neutral Score and details of the meta-predictor
APOGEE2
Vus Score and details of the meta-predictor
CAROL
Neutral Score and details of the meta-predictor
Condel
Deleterious Score and details of the meta-predictor
COVEC WMV
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
.
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
.

3497 (C > G)

General info

Chr
chrM
Start
3497
End
3497
Ref
C
Alt
G
Mitimpact ID
MI.11158
Gene symbol
MT-ND1
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
191
AA pos
64
AA ref
A
AA alt
G
Codon substitution
gCc/gGc
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
-0.943071 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
SIFT4G
Tolerated Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Neutral Score and details of the predictor
Mutation Assessor
Low impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Neutral Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Neutral Score and details of the predictor
SNAP
Neutral Score and details of the predictor
MitoClass 1
Neutral Score and details of the predictor
SNPDryad
Neutral Score and details of the predictor

Pathogenicity meta-predictors

APOGEE1
Neutral Score and details of the meta-predictor
APOGEE2
Vus- Score and details of the meta-predictor
CAROL
Neutral Score and details of the meta-predictor
Condel
Deleterious Score and details of the meta-predictor
COVEC WMV
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
.
Gnomad31 AC hom
.
Gnomad31 AC het
.
Gnomad31 AF hom
.
Gnomad31 AF het
.
Gnomad31 AN
.
HelixMTdb AC hom
.
HelixMTdb AF hom
.
HelixMTdb AC het
.
HelixMTdb AF het
.
HelixMTdb mean ARF
.
HelixMTdb max ARF
.
COSMIC 90
.
dbSNP 155

Residue interaction

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

Compensated Pathogenic Deviations

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

General info

Chr
chrM
Start
3497
End
3497
Ref
C
Alt
T
Mitimpact ID
MI.11156
Gene symbol
MT-ND1
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
191
AA pos
64
AA ref
A
AA alt
V
Codon substitution
gCc/gTc
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
-0.943071 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
SIFT4G
Tolerated Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Neutral Score and details of the predictor
Mutation Assessor
Low impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Neutral Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Neutral Score and details of the predictor
SNAP
Neutral Score and details of the predictor
MitoClass 1
Neutral Score and details of the predictor
SNPDryad
Neutral Score and details of the predictor

Pathogenicity meta-predictors

APOGEE1
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
Lhon
MITOMAP Disease Status
Reported / secondary
MITOMAP Disease GenBank Freq
0.349%(0.000%)
MITOMAP Disease GenBank Seqs
207 (0)
MITOMAP Disease GenBank Curated refs
6
MITOMAP General GenBank Freq
0.00349
MITOMAP General GenBank Seqs
207
MITOMAP General GenBank Curated refs
12
Gnomad31 filter
Pass
Gnomad31 AC hom
28
Gnomad31 AC het
1
Gnomad31 AF hom
0.0004961636
Gnomad31 AF het
0.00001772013
Gnomad31 AN
56433
HelixMTdb AC hom
238.0
HelixMTdb AF hom
0.0012143911
HelixMTdb AC het
2.0
HelixMTdb AF het
1.0204967e-05
HelixMTdb mean ARF
0.20944
HelixMTdb max ARF
0.28986
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
.
~ 3496 (G/A) 3496 (G/C) 3496 (G/T) 3497 (C/A) 3497 (C/G) 3497 (C/T)
~ 3496 (Gcc/Acc) 3496 (Gcc/Ccc) 3496 (Gcc/Tcc) 3497 (gCc/gAc) 3497 (gCc/gGc) 3497 (gCc/gTc)
Chr chrM chrM chrM chrM chrM chrM
Start 3496 3496 3496 3497 3497 3497
End 3496 3496 3496 3497 3497 3497
Ref G G G C C C
Alt A C T A G T
MitImpact id MI.11153 MI.11155 MI.11154 MI.11157 MI.11158 MI.11156
Gene symbol MT-ND1 MT-ND1 MT-ND1 MT-ND1 MT-ND1 MT-ND1
Respiratory Chain complex I I I I I I
Ensembl gene id ENSG00000198888 ENSG00000198888 ENSG00000198888 ENSG00000198888 ENSG00000198888 ENSG00000198888
Ensembl protein id ENSP00000354687 ENSP00000354687 ENSP00000354687 ENSP00000354687 ENSP00000354687 ENSP00000354687
Ensembl transcript id ENST00000361390 ENST00000361390 ENST00000361390 ENST00000361390 ENST00000361390 ENST00000361390
Uniprot name NU1M_HUMAN NU1M_HUMAN NU1M_HUMAN NU1M_HUMAN NU1M_HUMAN NU1M_HUMAN
Uniprot id P03886 P03886 P03886 P03886 P03886 P03886
Ncbi gene id 4535 4535 4535 4535 4535 4535
Ncbi protein id YP_003024026.1 YP_003024026.1 YP_003024026.1 YP_003024026.1 YP_003024026.1 YP_003024026.1
Gene position 190 190 190 191 191 191
AA position 64 64 64 64 64 64
AA ref A A A A A A
AA alt T P S D G V
Codon substitution Gcc/Acc Gcc/Ccc Gcc/Tcc gCc/gAc gCc/gGc gCc/gTc
PhyloP 100V -2.80228 -2.80228 -2.80228 -0.943071 -0.943071 -0.943071
PhastCons 100V 0 0 0 0 0 0
PolyPhen2 benign benign benign benign benign benign
PolyPhen2 score 0.0 0.11 0.0 0.06 0.04 0.01
SIFT neutral neutral neutral neutral neutral neutral
SIFT score 0.72 0.35 0.81 0.61 0.47 0.49
SIFT4G Tolerated Tolerated Tolerated Tolerated Tolerated Tolerated
SIFT4G score 0.23 0.051 1 0.05 0.078 0.14
FatHmm neutral neutral neutral neutral neutral neutral
FatHmm score -0.92 -2.44 -0.3 -1.26 -1.52 -2.06
FatHmmW neutral neutral neutral neutral neutral neutral
FatHmmW score 2.71 2.65 2.79 2.7 2.67 2.71
PROVEAN neutral neutral neutral neutral neutral neutral
PROVEAN score 0.01 -1.97 1.31 -1.71 -1.65 -1.4
MutationAssessor neutral impact low impact neutral impact low impact low impact low impact
MutationAssessor score -0.51 1.13 -0.84 1.34 1.44 1.36
EFIN SP neutral neutral neutral neutral neutral neutral
EFIN SP score 0.76 0.67 0.68 0.73 0.68 0.75
EFIN HD neutral neutral neutral neutral neutral neutral
EFIN HD score 0.74 0.37 0.95 0.41 0.54 0.71
CADD neutral neutral neutral neutral neutral neutral
CADD score 0.9 0.76 -1.03 1.42 0.82 1.25
CADD phred 10.05 9.24 0.01 12.87 9.59 11.99
VEST pvalue 0.34 0.17 0.42 0.15 0.39 0.27
VEST FDR 0.5 0.45 0.55 0.4 0.5 0.45
PANTHER neutral neutral neutral neutral neutral neutral
PANTHER score 0.18 0.29 0.13 0.22 0.32 0.16
PhD-SNP neutral disease neutral disease neutral neutral
PhD-SNP score 0.17 0.77 0.06 0.7 0.42 0.37
SNAP neutral neutral neutral neutral neutral neutral
SNAP score 0.14 0.28 0.11 0.37 0.25 0.17
Meta-SNP neutral disease neutral neutral neutral neutral
Meta-SNP score 0.28 0.58 0.21 0.48 0.47 0.44
Meta-SNP RI 4 1 6 0 1 1
CAROL neutral neutral neutral neutral neutral neutral
CAROL score 0.28 0.6 0.19 0.32 0.49 0.49
Condel deleterious deleterious deleterious deleterious deleterious deleterious
Condel score 0.86 0.62 0.91 0.78 0.72 0.74
COVEC WMV neutral neutral neutral neutral neutral neutral
COVEC WMV score -6 -6 -6 -6 -6 -6
MtoolBox neutral neutral neutral neutral neutral neutral
MtoolBox DS 0.09 0.26 0.08 0.18 0.14 0.12
PolyPhen2 transf high impact medium impact high impact medium impact medium impact medium impact
PolyPhen2 transf score 2.07 0.1 2.07 0.37 0.55 1.12
SIFT_transf medium impact medium impact medium impact medium impact medium impact medium impact
SIFT transf score 0.51 0.12 0.63 0.38 0.25 0.27
MutationAssessor transf low impact medium impact low impact medium impact medium impact medium impact
MutationAssessor transf score -1.63 -0.2 -1.92 -0.02 0.07 0
CHASM pvalue 0.55 0.37 0.39 0.17 0.52 0.47
CHASM FDR 0.8 0.8 0.8 0.8 0.8 0.8
APOGEE1 Neutral Neutral Neutral Neutral Neutral Neutral
APOGEE1 score 0.46 0.38 0.44 0.29 0.44 0.44
APOGEE2 Benign VUS Benign VUS VUS- Likely-benign
APOGEE2 score 0.0252991649228041 0.483325502098256 0.0300959733751049 0.405279884876124 0.271502508453901 0.125252764204327
SNPDryad score 0.34 0.74 0.07 0.54 0.49 0.45
MutationTaster polymorphism polymorphism polymorphism polymorphism polymorphism polymorphism
MutationTaster score 1 1 1 1 1 1
DEOGEN2 score 0.01 0.03 0.0 0.02 0.03 0.02
Mitoclass.1 neutral neutral neutral neutral neutral neutral
dbSNP 155 id rs1603218984 . rs1603218984 . . rs200319905
ClinVar July2022 Variation id . . . . . .
ClinVar July2022 CLNSIG . . . . . .
ClinVar July2022 CLNDN . . . . . .
ClinVar July2022 CLNDISDB . . . . . .
COSMIC 90 COSM5653110 . . . . .
MITOMAP Allele . . G3496T . . C3497T
MITOMAP Disease Het/Hom . . +/- . . +/-
MITOMAP Disease Clinical info . . LHON . . LHON
MITOMAP Disease Status . . Reported / Secondary . . Reported / Secondary
MITOMAP Disease GenBank Freq . . 0.019%(0.000%) . . 0.349%(0.000%)
MITOMAP Disease GenBank Seqs . . 11 (0) . . 207 (0)
MITOMAP Disease GenBank Curated refs . . 3 . . 6
MITOMAP General GenBank Freq 0.00013 . 0.00019 . . 0.00349
MITOMAP General GenBank Seqs 8 . 11 . . 207
MITOMAP General Curated refs 1 . 4 . . 12
gnomAD 3.1 filter PASS npg npg . . PASS
gnomAD 3.1 AC Homo 3 0 0 . . 28
gnomAD 3.1 AC Het 1 0 0 . . 1
gnomAD 3.1 AF Hom 0.000053165095 0 0 . . 0.0004961636
gnomAD 3.1 AF Het 0.000017721699 0 0 . . 0.00001772013
gnomAD 3.1 AN 56428 56431 56429 . . 56433
HelixMTdb AC Hom 6.0 . 16.0 . . 238.0
HelixMTdb AF Hom 3.06149e-05 . 8.163974e-05 . . 0.0012143911
HelixMTdb AC Het 1.0 . 0.0 . . 2.0
HelixMTdb AF Het 5.1024836e-06 . 0.0 . . 1.0204967e-05
HelixMTdb mean ARF 0.86726 . . . . 0.20944
HelixMTdb max ARF 0.86726 . . . . 0.28986
EVmutation MT-ND1_64A|65T:0.21755;118W:0.097737;183M:0.083952;69T:0.082342;110S:0.082298;305V:0.075737;99N:0.075659;87T:0.074904;302M:0.070495;70L:0.070242;266L:0.066295;247Y:0.065793 MT-ND1_64A|65T:0.21755;118W:0.097737;183M:0.083952;69T:0.082342;110S:0.082298;305V:0.075737;99N:0.075659;87T:0.074904;302M:0.070495;70L:0.070242;266L:0.066295;247Y:0.065793 MT-ND1_64A|65T:0.21755;118W:0.097737;183M:0.083952;69T:0.082342;110S:0.082298;305V:0.075737;99N:0.075659;87T:0.074904;302M:0.070495;70L:0.070242;266L:0.066295;247Y:0.065793 MT-ND1_64A|65T:0.21755;118W:0.097737;183M:0.083952;69T:0.082342;110S:0.082298;305V:0.075737;99N:0.075659;87T:0.074904;302M:0.070495;70L:0.070242;266L:0.066295;247Y:0.065793 MT-ND1_64A|65T:0.21755;118W:0.097737;183M:0.083952;69T:0.082342;110S:0.082298;305V:0.075737;99N:0.075659;87T:0.074904;302M:0.070495;70L:0.070242;266L:0.066295;247Y:0.065793 MT-ND1_64A|65T:0.21755;118W:0.097737;183M:0.083952;69T:0.082342;110S:0.082298;305V:0.075737;99N:0.075659;87T:0.074904;302M:0.070495;70L:0.070242;266L:0.066295;247Y:0.065793
Site A InterP ND1_64 ND1_64 ND1_64 ND1_64 ND1_64 ND1_64
Site B InterP ND4_86;ND5_4;ND6_95;ND2_213;ND2_22;ND2_6;ND2_239;ND2_221;ND2_90;ND2_89;ND2_96;ND2_48;ND3_29;ND3_85;ND3_90;ND3_21;ND3_88;ND3_45;ND3_46;ND3_93;ND3_18;ND3_92;ND3_89;ND4_4;ND4_363;ND4_357;ND4_248;ND4L_19;ND5_420;ND6_86;ND6_150;ND6_165;ND6_142;ND6_139;ND6_102;ND6_140 ND4_86;ND5_4;ND6_95;ND2_213;ND2_22;ND2_6;ND2_239;ND2_221;ND2_90;ND2_89;ND2_96;ND2_48;ND3_29;ND3_85;ND3_90;ND3_21;ND3_88;ND3_45;ND3_46;ND3_93;ND3_18;ND3_92;ND3_89;ND4_4;ND4_363;ND4_357;ND4_248;ND4L_19;ND5_420;ND6_86;ND6_150;ND6_165;ND6_142;ND6_139;ND6_102;ND6_140 ND4_86;ND5_4;ND6_95;ND2_213;ND2_22;ND2_6;ND2_239;ND2_221;ND2_90;ND2_89;ND2_96;ND2_48;ND3_29;ND3_85;ND3_90;ND3_21;ND3_88;ND3_45;ND3_46;ND3_93;ND3_18;ND3_92;ND3_89;ND4_4;ND4_363;ND4_357;ND4_248;ND4L_19;ND5_420;ND6_86;ND6_150;ND6_165;ND6_142;ND6_139;ND6_102;ND6_140 ND4_86;ND5_4;ND6_95;ND2_213;ND2_22;ND2_6;ND2_239;ND2_221;ND2_90;ND2_89;ND2_96;ND2_48;ND3_29;ND3_85;ND3_90;ND3_21;ND3_88;ND3_45;ND3_46;ND3_93;ND3_18;ND3_92;ND3_89;ND4_4;ND4_363;ND4_357;ND4_248;ND4L_19;ND5_420;ND6_86;ND6_150;ND6_165;ND6_142;ND6_139;ND6_102;ND6_140 ND4_86;ND5_4;ND6_95;ND2_213;ND2_22;ND2_6;ND2_239;ND2_221;ND2_90;ND2_89;ND2_96;ND2_48;ND3_29;ND3_85;ND3_90;ND3_21;ND3_88;ND3_45;ND3_46;ND3_93;ND3_18;ND3_92;ND3_89;ND4_4;ND4_363;ND4_357;ND4_248;ND4L_19;ND5_420;ND6_86;ND6_150;ND6_165;ND6_142;ND6_139;ND6_102;ND6_140 ND4_86;ND5_4;ND6_95;ND2_213;ND2_22;ND2_6;ND2_239;ND2_221;ND2_90;ND2_89;ND2_96;ND2_48;ND3_29;ND3_85;ND3_90;ND3_21;ND3_88;ND3_45;ND3_46;ND3_93;ND3_18;ND3_92;ND3_89;ND4_4;ND4_363;ND4_357;ND4_248;ND4L_19;ND5_420;ND6_86;ND6_150;ND6_165;ND6_142;ND6_139;ND6_102;ND6_140
Covariation Score InterP mfDCA_38.19;mfDCA_26.94;mfDCA_22.33;cMI_64.44566;cMI_62.52018;cMI_60.4021;cMI_56.45133;cMI_54.95405;cMI_53.87512;cMI_51.6195;cMI_51.002;cMI_47.62558;cMI_40.80143;cMI_40.31699;cMI_37.82036;cMI_36.19952;cMI_36.09641;cMI_32.72981;cMI_32.51378;cMI_32.15059;cMI_31.94808;cMI_31.65707;cMI_31.37539;cMI_26.4492;cMI_25.59954;cMI_25.42153;cMI_24.47381;cMI_46.40883;cMI_32.71994;cMI_56.91476;cMI_56.31747;cMI_56.27557;cMI_50.7122;cMI_50.43972;cMI_48.25338;cMI_47.30772 mfDCA_38.19;mfDCA_26.94;mfDCA_22.33;cMI_64.44566;cMI_62.52018;cMI_60.4021;cMI_56.45133;cMI_54.95405;cMI_53.87512;cMI_51.6195;cMI_51.002;cMI_47.62558;cMI_40.80143;cMI_40.31699;cMI_37.82036;cMI_36.19952;cMI_36.09641;cMI_32.72981;cMI_32.51378;cMI_32.15059;cMI_31.94808;cMI_31.65707;cMI_31.37539;cMI_26.4492;cMI_25.59954;cMI_25.42153;cMI_24.47381;cMI_46.40883;cMI_32.71994;cMI_56.91476;cMI_56.31747;cMI_56.27557;cMI_50.7122;cMI_50.43972;cMI_48.25338;cMI_47.30772 mfDCA_38.19;mfDCA_26.94;mfDCA_22.33;cMI_64.44566;cMI_62.52018;cMI_60.4021;cMI_56.45133;cMI_54.95405;cMI_53.87512;cMI_51.6195;cMI_51.002;cMI_47.62558;cMI_40.80143;cMI_40.31699;cMI_37.82036;cMI_36.19952;cMI_36.09641;cMI_32.72981;cMI_32.51378;cMI_32.15059;cMI_31.94808;cMI_31.65707;cMI_31.37539;cMI_26.4492;cMI_25.59954;cMI_25.42153;cMI_24.47381;cMI_46.40883;cMI_32.71994;cMI_56.91476;cMI_56.31747;cMI_56.27557;cMI_50.7122;cMI_50.43972;cMI_48.25338;cMI_47.30772 mfDCA_38.19;mfDCA_26.94;mfDCA_22.33;cMI_64.44566;cMI_62.52018;cMI_60.4021;cMI_56.45133;cMI_54.95405;cMI_53.87512;cMI_51.6195;cMI_51.002;cMI_47.62558;cMI_40.80143;cMI_40.31699;cMI_37.82036;cMI_36.19952;cMI_36.09641;cMI_32.72981;cMI_32.51378;cMI_32.15059;cMI_31.94808;cMI_31.65707;cMI_31.37539;cMI_26.4492;cMI_25.59954;cMI_25.42153;cMI_24.47381;cMI_46.40883;cMI_32.71994;cMI_56.91476;cMI_56.31747;cMI_56.27557;cMI_50.7122;cMI_50.43972;cMI_48.25338;cMI_47.30772 mfDCA_38.19;mfDCA_26.94;mfDCA_22.33;cMI_64.44566;cMI_62.52018;cMI_60.4021;cMI_56.45133;cMI_54.95405;cMI_53.87512;cMI_51.6195;cMI_51.002;cMI_47.62558;cMI_40.80143;cMI_40.31699;cMI_37.82036;cMI_36.19952;cMI_36.09641;cMI_32.72981;cMI_32.51378;cMI_32.15059;cMI_31.94808;cMI_31.65707;cMI_31.37539;cMI_26.4492;cMI_25.59954;cMI_25.42153;cMI_24.47381;cMI_46.40883;cMI_32.71994;cMI_56.91476;cMI_56.31747;cMI_56.27557;cMI_50.7122;cMI_50.43972;cMI_48.25338;cMI_47.30772 mfDCA_38.19;mfDCA_26.94;mfDCA_22.33;cMI_64.44566;cMI_62.52018;cMI_60.4021;cMI_56.45133;cMI_54.95405;cMI_53.87512;cMI_51.6195;cMI_51.002;cMI_47.62558;cMI_40.80143;cMI_40.31699;cMI_37.82036;cMI_36.19952;cMI_36.09641;cMI_32.72981;cMI_32.51378;cMI_32.15059;cMI_31.94808;cMI_31.65707;cMI_31.37539;cMI_26.4492;cMI_25.59954;cMI_25.42153;cMI_24.47381;cMI_46.40883;cMI_32.71994;cMI_56.91476;cMI_56.31747;cMI_56.27557;cMI_50.7122;cMI_50.43972;cMI_48.25338;cMI_47.30772
Site A IntraP ND1_64 ND1_64 ND1_64 ND1_64 ND1_64 ND1_64
Site B IntraP ND1_245;ND1_229;ND1_309;ND1_178;ND1_305;ND1_225;ND1_250;ND1_248;ND1_260;ND1_246;ND1_276 ND1_245;ND1_229;ND1_309;ND1_178;ND1_305;ND1_225;ND1_250;ND1_248;ND1_260;ND1_246;ND1_276 ND1_245;ND1_229;ND1_309;ND1_178;ND1_305;ND1_225;ND1_250;ND1_248;ND1_260;ND1_246;ND1_276 ND1_245;ND1_229;ND1_309;ND1_178;ND1_305;ND1_225;ND1_250;ND1_248;ND1_260;ND1_246;ND1_276 ND1_245;ND1_229;ND1_309;ND1_178;ND1_305;ND1_225;ND1_250;ND1_248;ND1_260;ND1_246;ND1_276 ND1_245;ND1_229;ND1_309;ND1_178;ND1_305;ND1_225;ND1_250;ND1_248;ND1_260;ND1_246;ND1_276
Covariation Score IntraP cMI_14.342117;mfDCA_22.8811;mfDCA_22.5193;mfDCA_22.0516;mfDCA_21.8998;mfDCA_21.564;mfDCA_19.5808;mfDCA_19.0999;mfDCA_18.3416;mfDCA_16.1252;mfDCA_14.823 cMI_14.342117;mfDCA_22.8811;mfDCA_22.5193;mfDCA_22.0516;mfDCA_21.8998;mfDCA_21.564;mfDCA_19.5808;mfDCA_19.0999;mfDCA_18.3416;mfDCA_16.1252;mfDCA_14.823 cMI_14.342117;mfDCA_22.8811;mfDCA_22.5193;mfDCA_22.0516;mfDCA_21.8998;mfDCA_21.564;mfDCA_19.5808;mfDCA_19.0999;mfDCA_18.3416;mfDCA_16.1252;mfDCA_14.823 cMI_14.342117;mfDCA_22.8811;mfDCA_22.5193;mfDCA_22.0516;mfDCA_21.8998;mfDCA_21.564;mfDCA_19.5808;mfDCA_19.0999;mfDCA_18.3416;mfDCA_16.1252;mfDCA_14.823 cMI_14.342117;mfDCA_22.8811;mfDCA_22.5193;mfDCA_22.0516;mfDCA_21.8998;mfDCA_21.564;mfDCA_19.5808;mfDCA_19.0999;mfDCA_18.3416;mfDCA_16.1252;mfDCA_14.823 cMI_14.342117;mfDCA_22.8811;mfDCA_22.5193;mfDCA_22.0516;mfDCA_21.8998;mfDCA_21.564;mfDCA_19.5808;mfDCA_19.0999;mfDCA_18.3416;mfDCA_16.1252;mfDCA_14.823
CPD AA ref . . . . . .
CPD AA alt . . . . . .
CPD Aln pos . . . . . .
CPD Frequency . . . . . .
CPD Species name . . . . . .
CPD RefSeq Protein ID . . . . . .
CPD Ncbi Taxon id . . . . . .
DDG intra MT-ND1:A64T:T245A:0.276091:0.187811:-0.0212179;MT-ND1:A64T:T245K:2.8503:0.187811:2.88431;MT-ND1:A64T:T245P:-1.77736:0.187811:-2.15484;MT-ND1:A64T:T245M:0.0980715:0.187811:-0.233521;MT-ND1:A64T:T245S:0.801626:0.187811:0.59531;MT-ND1:A64T:T246A:0.579593:0.187811:0.393197;MT-ND1:A64T:T246P:-0.775521:0.187811:-0.949064;MT-ND1:A64T:T246S:0.0648742:0.187811:-0.121189;MT-ND1:A64T:T246M:0.326569:0.187811:0.113932;MT-ND1:A64T:T246K:0.75316:0.187811:0.53622;MT-ND1:A64T:D248H:0.999094:0.187811:0.709978;MT-ND1:A64T:D248Y:0.325915:0.187811:-0.0124181;MT-ND1:A64T:D248G:1.25568:0.187811:1.01568;MT-ND1:A64T:D248A:0.729766:0.187811:0.469864;MT-ND1:A64T:D248E:0.211487:0.187811:-0.0363487;MT-ND1:A64T:D248N:0.480687:0.187811:0.27503;MT-ND1:A64T:D248V:0.786552:0.187811:0.460803;MT-ND1:A64T:L250I:0.606484:0.187811:0.412886;MT-ND1:A64T:L250F:0.218952:0.187811:0.0290031;MT-ND1:A64T:L250V:0.701436:0.187811:0.518854;MT-ND1:A64T:L250P:1.2973:0.187811:1.11168;MT-ND1:A64T:L250H:0.352982:0.187811:0.108448;MT-ND1:A64T:L250R:-0.354091:0.187811:-0.508427;MT-ND1:A64T:A276G:0.571749:0.187811:0.386782;MT-ND1:A64T:A276V:0.816931:0.187811:0.62968;MT-ND1:A64T:A276T:0.897024:0.187811:0.683193;MT-ND1:A64T:A276E:0.241989:0.187811:0.0557187;MT-ND1:A64T:A276P:1.44294:0.187811:1.16054;MT-ND1:A64T:A276S:-0.0237564:0.187811:-0.200186 MT-ND1:A64P:T245S:-0.801278:-1.39502:0.59531;MT-ND1:A64P:T245K:0.807853:-1.39502:2.88431;MT-ND1:A64P:T245A:-1.35626:-1.39502:-0.0212179;MT-ND1:A64P:T245P:-3.55983:-1.39502:-2.15484;MT-ND1:A64P:T245M:-1.6935:-1.39502:-0.233521;MT-ND1:A64P:T246K:-0.851043:-1.39502:0.53622;MT-ND1:A64P:T246A:-1.00295:-1.39502:0.393197;MT-ND1:A64P:T246S:-1.51726:-1.39502:-0.121189;MT-ND1:A64P:T246M:-1.26842:-1.39502:0.113932;MT-ND1:A64P:T246P:-2.35894:-1.39502:-0.949064;MT-ND1:A64P:D248H:-0.652272:-1.39502:0.709978;MT-ND1:A64P:D248Y:-1.31704:-1.39502:-0.0124181;MT-ND1:A64P:D248N:-1.12795:-1.39502:0.27503;MT-ND1:A64P:D248G:-0.343827:-1.39502:1.01568;MT-ND1:A64P:D248A:-0.892202:-1.39502:0.469864;MT-ND1:A64P:D248V:-0.989584:-1.39502:0.460803;MT-ND1:A64P:D248E:-1.43335:-1.39502:-0.0363487;MT-ND1:A64P:L250R:-1.93156:-1.39502:-0.508427;MT-ND1:A64P:L250V:-0.882259:-1.39502:0.518854;MT-ND1:A64P:L250I:-0.969771:-1.39502:0.412886;MT-ND1:A64P:L250P:-0.416392:-1.39502:1.11168;MT-ND1:A64P:L250H:-1.24722:-1.39502:0.108448;MT-ND1:A64P:L250F:-1.32045:-1.39502:0.0290031;MT-ND1:A64P:A276V:-0.765791:-1.39502:0.62968;MT-ND1:A64P:A276T:-0.717143:-1.39502:0.683193;MT-ND1:A64P:A276G:-1.0173:-1.39502:0.386782;MT-ND1:A64P:A276P:-0.384061:-1.39502:1.16054;MT-ND1:A64P:A276E:-1.33989:-1.39502:0.0557187;MT-ND1:A64P:A276S:-1.60267:-1.39502:-0.200186 MT-ND1:A64S:T245A:0.190663:0.249641:-0.0212179;MT-ND1:A64S:T245P:-1.74279:0.249641:-2.15484;MT-ND1:A64S:T245S:0.824595:0.249641:0.59531;MT-ND1:A64S:T245M:-0.13552:0.249641:-0.233521;MT-ND1:A64S:T245K:2.92241:0.249641:2.88431;MT-ND1:A64S:T246M:0.355215:0.249641:0.113932;MT-ND1:A64S:T246S:0.1281:0.249641:-0.121189;MT-ND1:A64S:T246A:0.642818:0.249641:0.393197;MT-ND1:A64S:T246K:0.817687:0.249641:0.53622;MT-ND1:A64S:T246P:-0.709822:0.249641:-0.949064;MT-ND1:A64S:D248E:0.213008:0.249641:-0.0363487;MT-ND1:A64S:D248G:1.27018:0.249641:1.01568;MT-ND1:A64S:D248V:0.692142:0.249641:0.460803;MT-ND1:A64S:D248A:0.771225:0.249641:0.469864;MT-ND1:A64S:D248H:0.980396:0.249641:0.709978;MT-ND1:A64S:D248Y:0.223799:0.249641:-0.0124181;MT-ND1:A64S:D248N:0.513177:0.249641:0.27503;MT-ND1:A64S:L250F:0.285672:0.249641:0.0290031;MT-ND1:A64S:L250R:-0.27005:0.249641:-0.508427;MT-ND1:A64S:L250V:0.739592:0.249641:0.518854;MT-ND1:A64S:L250I:0.678127:0.249641:0.412886;MT-ND1:A64S:L250P:1.24729:0.249641:1.11168;MT-ND1:A64S:L250H:0.34658:0.249641:0.108448;MT-ND1:A64S:A276G:0.623825:0.249641:0.386782;MT-ND1:A64S:A276E:0.303716:0.249641:0.0557187;MT-ND1:A64S:A276P:1.48856:0.249641:1.16054;MT-ND1:A64S:A276V:0.879093:0.249641:0.62968;MT-ND1:A64S:A276T:0.921644:0.249641:0.683193;MT-ND1:A64S:A276S:0.0497663:0.249641:-0.200186 MT-ND1:A64D:T245K:3.1494:0.175529:2.88431;MT-ND1:A64D:T245P:-1.94946:0.175529:-2.15484;MT-ND1:A64D:T245M:-0.211038:0.175529:-0.233521;MT-ND1:A64D:T245A:0.236152:0.175529:-0.0212179;MT-ND1:A64D:T245S:0.755133:0.175529:0.59531;MT-ND1:A64D:T246S:0.0543214:0.175529:-0.121189;MT-ND1:A64D:T246M:0.28801:0.175529:0.113932;MT-ND1:A64D:T246K:0.712343:0.175529:0.53622;MT-ND1:A64D:T246P:-0.774925:0.175529:-0.949064;MT-ND1:A64D:T246A:0.569121:0.175529:0.393197;MT-ND1:A64D:D248V:0.567356:0.175529:0.460803;MT-ND1:A64D:D248E:0.135112:0.175529:-0.0363487;MT-ND1:A64D:D248Y:0.268048:0.175529:-0.0124181;MT-ND1:A64D:D248G:1.14022:0.175529:1.01568;MT-ND1:A64D:D248A:0.712558:0.175529:0.469864;MT-ND1:A64D:D248H:0.857183:0.175529:0.709978;MT-ND1:A64D:D248N:0.436452:0.175529:0.27503;MT-ND1:A64D:L250F:0.20128:0.175529:0.0290031;MT-ND1:A64D:L250H:0.276572:0.175529:0.108448;MT-ND1:A64D:L250R:-0.295136:0.175529:-0.508427;MT-ND1:A64D:L250I:0.589126:0.175529:0.412886;MT-ND1:A64D:L250V:0.678823:0.175529:0.518854;MT-ND1:A64D:L250P:1.17507:0.175529:1.11168;MT-ND1:A64D:A276E:0.231911:0.175529:0.0557187;MT-ND1:A64D:A276V:0.798398:0.175529:0.62968;MT-ND1:A64D:A276T:0.86287:0.175529:0.683193;MT-ND1:A64D:A276G:0.555162:0.175529:0.386782;MT-ND1:A64D:A276S:-0.0185656:0.175529:-0.200186;MT-ND1:A64D:A276P:1.37603:0.175529:1.16054 MT-ND1:A64G:T245A:0.226187:0.221734:-0.0212179;MT-ND1:A64G:T245S:0.824407:0.221734:0.59531;MT-ND1:A64G:T245P:-1.91837:0.221734:-2.15484;MT-ND1:A64G:T245M:-0.105044:0.221734:-0.233521;MT-ND1:A64G:T245K:3.25376:0.221734:2.88431;MT-ND1:A64G:T246S:0.10026:0.221734:-0.121189;MT-ND1:A64G:T246M:0.342056:0.221734:0.113932;MT-ND1:A64G:T246P:-0.732341:0.221734:-0.949064;MT-ND1:A64G:T246K:0.752018:0.221734:0.53622;MT-ND1:A64G:T246A:0.614539:0.221734:0.393197;MT-ND1:A64G:D248N:0.496277:0.221734:0.27503;MT-ND1:A64G:D248H:0.946212:0.221734:0.709978;MT-ND1:A64G:D248V:0.654698:0.221734:0.460803;MT-ND1:A64G:D248Y:0.254225:0.221734:-0.0124181;MT-ND1:A64G:D248G:1.24184:0.221734:1.01568;MT-ND1:A64G:D248A:0.726488:0.221734:0.469864;MT-ND1:A64G:D248E:0.190584:0.221734:-0.0363487;MT-ND1:A64G:L250I:0.632619:0.221734:0.412886;MT-ND1:A64G:L250F:0.257221:0.221734:0.0290031;MT-ND1:A64G:L250V:0.71142:0.221734:0.518854;MT-ND1:A64G:L250H:0.350236:0.221734:0.108448;MT-ND1:A64G:L250P:1.20007:0.221734:1.11168;MT-ND1:A64G:L250R:-0.291565:0.221734:-0.508427;MT-ND1:A64G:A276G:0.608516:0.221734:0.386782;MT-ND1:A64G:A276E:0.26669:0.221734:0.0557187;MT-ND1:A64G:A276P:1.42061:0.221734:1.16054;MT-ND1:A64G:A276V:0.850426:0.221734:0.62968;MT-ND1:A64G:A276T:0.89468:0.221734:0.683193;MT-ND1:A64G:A276S:0.0132851:0.221734:-0.200186 MT-ND1:A64V:T245A:0.282211:0.240076:-0.0212179;MT-ND1:A64V:T245K:2.61657:0.240076:2.88431;MT-ND1:A64V:T245P:-1.75337:0.240076:-2.15484;MT-ND1:A64V:T245S:0.835254:0.240076:0.59531;MT-ND1:A64V:T246P:-0.71974:0.240076:-0.949064;MT-ND1:A64V:T246A:0.634241:0.240076:0.393197;MT-ND1:A64V:T246K:0.79087:0.240076:0.53622;MT-ND1:A64V:T246S:0.118871:0.240076:-0.121189;MT-ND1:A64V:D248G:1.26993:0.240076:1.01568;MT-ND1:A64V:D248A:0.74165:0.240076:0.469864;MT-ND1:A64V:D248H:0.989303:0.240076:0.709978;MT-ND1:A64V:D248N:0.50523:0.240076:0.27503;MT-ND1:A64V:D248Y:0.271555:0.240076:-0.0124181;MT-ND1:A64V:D248E:0.185623:0.240076:-0.0363487;MT-ND1:A64V:L250F:0.278187:0.240076:0.0290031;MT-ND1:A64V:L250P:1.20409:0.240076:1.11168;MT-ND1:A64V:L250V:0.741858:0.240076:0.518854;MT-ND1:A64V:L250H:0.423228:0.240076:0.108448;MT-ND1:A64V:L250I:0.65484:0.240076:0.412886;MT-ND1:A64V:A276V:0.869572:0.240076:0.62968;MT-ND1:A64V:A276G:0.626582:0.240076:0.386782;MT-ND1:A64V:A276S:0.0385583:0.240076:-0.200186;MT-ND1:A64V:A276E:0.295701:0.240076:0.0557187;MT-ND1:A64V:A276P:1.43884:0.240076:1.16054;MT-ND1:A64V:T246M:0.340639:0.240076:0.113932;MT-ND1:A64V:T245M:-0.321748:0.240076:-0.233521;MT-ND1:A64V:D248V:0.648625:0.240076:0.460803;MT-ND1:A64V:L250R:-0.296961:0.240076:-0.508427;MT-ND1:A64V:A276T:0.931218:0.240076:0.683193
DDG intra interface . . . . . .
DDG inter MT-ND1:MT-ND3:5lc5:H:A:A64T:S45F:-0.01885:0.20746994:-0.184449762;MT-ND1:MT-ND3:5lc5:H:A:A64T:S45Y:0.03366:0.20746994:-0.209069446;MT-ND1:MT-ND3:5lc5:H:A:A64T:S45A:0.11013:0.20746994:-0.0903697982;MT-ND1:MT-ND3:5lc5:H:A:A64T:S45T:0.38004:0.20746994:0.215980917;MT-ND1:MT-ND3:5lc5:H:A:A64T:S45C:-0.26711:0.20746994:-0.407060623;MT-ND1:MT-ND3:5lc5:H:A:A64T:S45P:-0.9239:0.20746994:-1.09178007;MT-ND1:MT-ND3:5ldw:H:A:A64T:P46A:0.24139:0.10172081:0.124702454;MT-ND1:MT-ND3:5ldw:H:A:A64T:P46S:0.33821:0.10172081:0.256430447;MT-ND1:MT-ND3:5ldw:H:A:A64T:P46T:0.5889:0.10172081:0.476390839;MT-ND1:MT-ND3:5ldw:H:A:A64T:P46R:-0.35933:0.10172081:-0.374820709;MT-ND1:MT-ND3:5ldw:H:A:A64T:P46L:-0.40207:0.10172081:-0.427488327;MT-ND1:MT-ND3:5ldw:H:A:A64T:P46H:-0.01653:0.10172081:-0.123018265;MT-ND1:MT-ND3:5ldw:H:A:A64T:S45F:0.05697:0.10172081:0.122009657;MT-ND1:MT-ND3:5ldw:H:A:A64T:S45Y:0.80886:0.10172081:0.377010345;MT-ND1:MT-ND3:5ldw:H:A:A64T:S45A:0.08599:0.10172081:-0.0156085966;MT-ND1:MT-ND3:5ldw:H:A:A64T:S45T:0.35343:0.10172081:0.170780182;MT-ND1:MT-ND3:5ldw:H:A:A64T:S45C:0.00913:0.10172081:-0.0661293045;MT-ND1:MT-ND3:5ldw:H:A:A64T:S45P:-0.18431:0.10172081:-0.288380057;MT-ND1:MT-ND3:5ldx:H:A:A64T:P46A:0.27275:0.107588194:0.17194137;MT-ND1:MT-ND3:5ldx:H:A:A64T:P46S:0.32556:0.107588194:0.202388763;MT-ND1:MT-ND3:5ldx:H:A:A64T:P46T:0.30775:0.107588194:0.200049967;MT-ND1:MT-ND3:5ldx:H:A:A64T:P46R:-0.37666:0.107588194:-0.366769791;MT-ND1:MT-ND3:5ldx:H:A:A64T:P46L:-0.42001:0.107588194:-0.57003057;MT-ND1:MT-ND3:5ldx:H:A:A64T:P46H:-0.06405:0.107588194:-0.150340647;MT-ND1:MT-ND3:5ldx:H:A:A64T:S45F:0.62142:0.107588194:0.507999063;MT-ND1:MT-ND3:5ldx:H:A:A64T:S45Y:0.61503:0.107588194:0.507420719;MT-ND1:MT-ND3:5ldx:H:A:A64T:S45A:0.65342:0.107588194:0.531179786;MT-ND1:MT-ND3:5ldx:H:A:A64T:S45T:0.48902:0.107588194:0.424250036;MT-ND1:MT-ND3:5ldx:H:A:A64T:S45C:0.6507:0.107588194:0.429790109;MT-ND1:MT-ND3:5ldx:H:A:A64T:S45P:0.88499:0.107588194:0.854759216 MT-ND1:MT-ND3:5lc5:H:A:A64P:S45Y:3.25654:3.39117956:-0.209069446;MT-ND1:MT-ND3:5lc5:H:A:A64P:S45P:2.34015:3.39117956:-1.09178007;MT-ND1:MT-ND3:5lc5:H:A:A64P:S45T:3.61842:3.39117956:0.215980917;MT-ND1:MT-ND3:5lc5:H:A:A64P:S45A:3.33631:3.39117956:-0.0903697982;MT-ND1:MT-ND3:5lc5:H:A:A64P:S45C:3.08538:3.39117956:-0.407060623;MT-ND1:MT-ND3:5lc5:H:A:A64P:S45F:3.22824:3.39117956:-0.184449762;MT-ND1:MT-ND3:5ldw:H:A:A64P:P46R:1.25886:1.89254951:-0.374820709;MT-ND1:MT-ND3:5ldw:H:A:A64P:P46T:2.20987:1.89254951:0.476390839;MT-ND1:MT-ND3:5ldw:H:A:A64P:P46S:1.98009:1.89254951:0.256430447;MT-ND1:MT-ND3:5ldw:H:A:A64P:P46L:1.26295:1.89254951:-0.427488327;MT-ND1:MT-ND3:5ldw:H:A:A64P:P46A:2.16525:1.89254951:0.124702454;MT-ND1:MT-ND3:5ldw:H:A:A64P:P46H:1.50292:1.89254951:-0.123018265;MT-ND1:MT-ND3:5ldw:H:A:A64P:S45Y:2.15745:1.89254951:0.377010345;MT-ND1:MT-ND3:5ldw:H:A:A64P:S45P:1.51753:1.89254951:-0.288380057;MT-ND1:MT-ND3:5ldw:H:A:A64P:S45T:2.16184:1.89254951:0.170780182;MT-ND1:MT-ND3:5ldw:H:A:A64P:S45A:1.82161:1.89254951:-0.0156085966;MT-ND1:MT-ND3:5ldw:H:A:A64P:S45C:1.58854:1.89254951:-0.0661293045;MT-ND1:MT-ND3:5ldw:H:A:A64P:S45F:2.22822:1.89254951:0.122009657;MT-ND1:MT-ND3:5ldx:H:A:A64P:P46R:3.38708:3.81227994:-0.366769791;MT-ND1:MT-ND3:5ldx:H:A:A64P:P46T:2.83305:3.81227994:0.200049967;MT-ND1:MT-ND3:5ldx:H:A:A64P:P46S:3.24829:3.81227994:0.202388763;MT-ND1:MT-ND3:5ldx:H:A:A64P:P46L:3.03385:3.81227994:-0.57003057;MT-ND1:MT-ND3:5ldx:H:A:A64P:P46A:3.56607:3.81227994:0.17194137;MT-ND1:MT-ND3:5ldx:H:A:A64P:P46H:3.36807:3.81227994:-0.150340647;MT-ND1:MT-ND3:5ldx:H:A:A64P:S45Y:4.3976:3.81227994:0.507420719;MT-ND1:MT-ND3:5ldx:H:A:A64P:S45P:4.03637:3.81227994:0.854759216;MT-ND1:MT-ND3:5ldx:H:A:A64P:S45T:3.51497:3.81227994:0.424250036;MT-ND1:MT-ND3:5ldx:H:A:A64P:S45A:3.25567:3.81227994:0.531179786;MT-ND1:MT-ND3:5ldx:H:A:A64P:S45C:3.28226:3.81227994:0.429790109;MT-ND1:MT-ND3:5ldx:H:A:A64P:S45F:3.71931:3.81227994:0.507999063 MT-ND1:MT-ND3:5lc5:H:A:A64S:S45A:-0.09243:-0.015329361:-0.0903697982;MT-ND1:MT-ND3:5lc5:H:A:A64S:S45F:-0.23046:-0.015329361:-0.184449762;MT-ND1:MT-ND3:5lc5:H:A:A64S:S45T:0.13552:-0.015329361:0.215980917;MT-ND1:MT-ND3:5lc5:H:A:A64S:S45P:-1.0989:-0.015329361:-1.09178007;MT-ND1:MT-ND3:5lc5:H:A:A64S:S45C:-0.40206:-0.015329361:-0.407060623;MT-ND1:MT-ND3:5lc5:H:A:A64S:S45Y:-0.24798:-0.015329361:-0.209069446;MT-ND1:MT-ND3:5ldw:H:A:A64S:P46T:0.44609:-0.00129890442:0.476390839;MT-ND1:MT-ND3:5ldw:H:A:A64S:P46R:-0.46345:-0.00129890442:-0.374820709;MT-ND1:MT-ND3:5ldw:H:A:A64S:P46L:-0.45383:-0.00129890442:-0.427488327;MT-ND1:MT-ND3:5ldw:H:A:A64S:P46H:-0.09613:-0.00129890442:-0.123018265;MT-ND1:MT-ND3:5ldw:H:A:A64S:P46S:0.22519:-0.00129890442:0.256430447;MT-ND1:MT-ND3:5ldw:H:A:A64S:P46A:0.13265:-0.00129890442:0.124702454;MT-ND1:MT-ND3:5ldw:H:A:A64S:S45A:-0.01984:-0.00129890442:-0.0156085966;MT-ND1:MT-ND3:5ldw:H:A:A64S:S45F:0.01067:-0.00129890442:0.122009657;MT-ND1:MT-ND3:5ldw:H:A:A64S:S45T:0.31238:-0.00129890442:0.170780182;MT-ND1:MT-ND3:5ldw:H:A:A64S:S45P:-0.31463:-0.00129890442:-0.288380057;MT-ND1:MT-ND3:5ldw:H:A:A64S:S45C:-0.32393:-0.00129890442:-0.0661293045;MT-ND1:MT-ND3:5ldw:H:A:A64S:S45Y:0.34543:-0.00129890442:0.377010345;MT-ND1:MT-ND3:5ldx:H:A:A64S:P46T:0.19556:-0.00452117901:0.200049967;MT-ND1:MT-ND3:5ldx:H:A:A64S:P46R:-0.44234:-0.00452117901:-0.366769791;MT-ND1:MT-ND3:5ldx:H:A:A64S:P46L:-0.54013:-0.00452117901:-0.57003057;MT-ND1:MT-ND3:5ldx:H:A:A64S:P46H:-0.18595:-0.00452117901:-0.150340647;MT-ND1:MT-ND3:5ldx:H:A:A64S:P46S:0.19682:-0.00452117901:0.202388763;MT-ND1:MT-ND3:5ldx:H:A:A64S:P46A:0.16036:-0.00452117901:0.17194137;MT-ND1:MT-ND3:5ldx:H:A:A64S:S45A:0.54492:-0.00452117901:0.531179786;MT-ND1:MT-ND3:5ldx:H:A:A64S:S45F:0.50879:-0.00452117901:0.507999063;MT-ND1:MT-ND3:5ldx:H:A:A64S:S45T:0.37223:-0.00452117901:0.424250036;MT-ND1:MT-ND3:5ldx:H:A:A64S:S45P:0.74854:-0.00452117901:0.854759216;MT-ND1:MT-ND3:5ldx:H:A:A64S:S45C:0.49515:-0.00452117901:0.429790109;MT-ND1:MT-ND3:5ldx:H:A:A64S:S45Y:0.50502:-0.00452117901:0.507420719 MT-ND1:MT-ND3:5lc5:H:A:A64D:S45C:-0.5585:0.00521049509:-0.407060623;MT-ND1:MT-ND3:5lc5:H:A:A64D:S45P:-1.07176:0.00521049509:-1.09178007;MT-ND1:MT-ND3:5lc5:H:A:A64D:S45F:-0.24595:0.00521049509:-0.184449762;MT-ND1:MT-ND3:5lc5:H:A:A64D:S45Y:-0.1406:0.00521049509:-0.209069446;MT-ND1:MT-ND3:5lc5:H:A:A64D:S45A:-0.06206:0.00521049509:-0.0903697982;MT-ND1:MT-ND3:5lc5:H:A:A64D:S45T:0.20795:0.00521049509:0.215980917;MT-ND1:MT-ND3:5ldw:H:A:A64D:P46H:-0.08909:0.016371537:-0.123018265;MT-ND1:MT-ND3:5ldw:H:A:A64D:P46S:0.24918:0.016371537:0.256430447;MT-ND1:MT-ND3:5ldw:H:A:A64D:P46T:0.47772:0.016371537:0.476390839;MT-ND1:MT-ND3:5ldw:H:A:A64D:P46L:-0.55607:0.016371537:-0.427488327;MT-ND1:MT-ND3:5ldw:H:A:A64D:P46A:0.13961:0.016371537:0.124702454;MT-ND1:MT-ND3:5ldw:H:A:A64D:P46R:-0.56668:0.016371537:-0.374820709;MT-ND1:MT-ND3:5ldw:H:A:A64D:S45C:0.12722:0.016371537:-0.0661293045;MT-ND1:MT-ND3:5ldw:H:A:A64D:S45P:-0.28629:0.016371537:-0.288380057;MT-ND1:MT-ND3:5ldw:H:A:A64D:S45F:-0.10511:0.016371537:0.122009657;MT-ND1:MT-ND3:5ldw:H:A:A64D:S45Y:0.55524:0.016371537:0.377010345;MT-ND1:MT-ND3:5ldw:H:A:A64D:S45A:0.00147:0.016371537:-0.0156085966;MT-ND1:MT-ND3:5ldw:H:A:A64D:S45T:0.09323:0.016371537:0.170780182;MT-ND1:MT-ND3:5ldx:H:A:A64D:P46H:-0.1598:-0.0113109592:-0.150340647;MT-ND1:MT-ND3:5ldx:H:A:A64D:P46S:0.19896:-0.0113109592:0.202388763;MT-ND1:MT-ND3:5ldx:H:A:A64D:P46T:0.18772:-0.0113109592:0.200049967;MT-ND1:MT-ND3:5ldx:H:A:A64D:P46L:-0.50496:-0.0113109592:-0.57003057;MT-ND1:MT-ND3:5ldx:H:A:A64D:P46A:0.16196:-0.0113109592:0.17194137;MT-ND1:MT-ND3:5ldx:H:A:A64D:P46R:-0.60659:-0.0113109592:-0.366769791;MT-ND1:MT-ND3:5ldx:H:A:A64D:S45C:0.48422:-0.0113109592:0.429790109;MT-ND1:MT-ND3:5ldx:H:A:A64D:S45P:0.68501:-0.0113109592:0.854759216;MT-ND1:MT-ND3:5ldx:H:A:A64D:S45F:0.49689:-0.0113109592:0.507999063;MT-ND1:MT-ND3:5ldx:H:A:A64D:S45Y:0.4991:-0.0113109592:0.507420719;MT-ND1:MT-ND3:5ldx:H:A:A64D:S45A:0.53624:-0.0113109592:0.531179786;MT-ND1:MT-ND3:5ldx:H:A:A64D:S45T:0.2769:-0.0113109592:0.424250036 MT-ND1:MT-ND3:5lc5:H:A:A64G:S45F:-0.51142:-0.339129269:-0.184449762;MT-ND1:MT-ND3:5lc5:H:A:A64G:S45P:-1.41027:-0.339129269:-1.09178007;MT-ND1:MT-ND3:5lc5:H:A:A64G:S45Y:-0.53879:-0.339129269:-0.209069446;MT-ND1:MT-ND3:5lc5:H:A:A64G:S45A:-0.44291:-0.339129269:-0.0903697982;MT-ND1:MT-ND3:5lc5:H:A:A64G:S45C:-0.78346:-0.339129269:-0.407060623;MT-ND1:MT-ND3:5lc5:H:A:A64G:S45T:-0.12843:-0.339129269:0.215980917;MT-ND1:MT-ND3:5ldw:H:A:A64G:P46S:-0.03567:-0.290697873:0.256430447;MT-ND1:MT-ND3:5ldw:H:A:A64G:P46R:-0.57309:-0.290697873:-0.374820709;MT-ND1:MT-ND3:5ldw:H:A:A64G:P46T:0.17879:-0.290697873:0.476390839;MT-ND1:MT-ND3:5ldw:H:A:A64G:P46H:-0.16848:-0.290697873:-0.123018265;MT-ND1:MT-ND3:5ldw:H:A:A64G:P46L:-0.71876:-0.290697873:-0.427488327;MT-ND1:MT-ND3:5ldw:H:A:A64G:P46A:-0.16665:-0.290697873:0.124702454;MT-ND1:MT-ND3:5ldw:H:A:A64G:S45F:-0.1581:-0.290697873:0.122009657;MT-ND1:MT-ND3:5ldw:H:A:A64G:S45P:-0.58631:-0.290697873:-0.288380057;MT-ND1:MT-ND3:5ldw:H:A:A64G:S45Y:0.48116:-0.290697873:0.377010345;MT-ND1:MT-ND3:5ldw:H:A:A64G:S45A:-0.30644:-0.290697873:-0.0156085966;MT-ND1:MT-ND3:5ldw:H:A:A64G:S45C:-0.49347:-0.290697873:-0.0661293045;MT-ND1:MT-ND3:5ldw:H:A:A64G:S45T:-0.03498:-0.290697873:0.170780182;MT-ND1:MT-ND3:5ldx:H:A:A64G:P46S:-0.12144:-0.325099945:0.202388763;MT-ND1:MT-ND3:5ldx:H:A:A64G:P46R:-0.67392:-0.325099945:-0.366769791;MT-ND1:MT-ND3:5ldx:H:A:A64G:P46T:-0.12477:-0.325099945:0.200049967;MT-ND1:MT-ND3:5ldx:H:A:A64G:P46H:-0.27914:-0.325099945:-0.150340647;MT-ND1:MT-ND3:5ldx:H:A:A64G:P46L:-0.8245:-0.325099945:-0.57003057;MT-ND1:MT-ND3:5ldx:H:A:A64G:P46A:-0.15941:-0.325099945:0.17194137;MT-ND1:MT-ND3:5ldx:H:A:A64G:S45F:0.18506:-0.325099945:0.507999063;MT-ND1:MT-ND3:5ldx:H:A:A64G:S45P:0.44228:-0.325099945:0.854759216;MT-ND1:MT-ND3:5ldx:H:A:A64G:S45Y:0.17931:-0.325099945:0.507420719;MT-ND1:MT-ND3:5ldx:H:A:A64G:S45A:0.22381:-0.325099945:0.531179786;MT-ND1:MT-ND3:5ldx:H:A:A64G:S45C:0.14561:-0.325099945:0.429790109;MT-ND1:MT-ND3:5ldx:H:A:A64G:S45T:0.27749:-0.325099945:0.424250036 MT-ND1:MT-ND3:5lc5:H:A:A64V:S45F:-0.02833:0.204209521:-0.184449762;MT-ND1:MT-ND3:5lc5:H:A:A64V:S45A:0.11566:0.204209521:-0.0903697982;MT-ND1:MT-ND3:5lc5:H:A:A64V:S45P:-0.87059:0.204209521:-1.09178007;MT-ND1:MT-ND3:5lc5:H:A:A64V:S45Y:-0.04948:0.204209521:-0.209069446;MT-ND1:MT-ND3:5lc5:H:A:A64V:S45T:0.40023:0.204209521:0.215980917;MT-ND1:MT-ND3:5lc5:H:A:A64V:S45C:-0.38816:0.204209521:-0.407060623;MT-ND1:MT-ND3:5ldw:H:A:A64V:P46H:-0.06719:0.0742809325:-0.123018265;MT-ND1:MT-ND3:5ldw:H:A:A64V:P46A:0.21659:0.0742809325:0.124702454;MT-ND1:MT-ND3:5ldw:H:A:A64V:P46T:0.53328:0.0742809325:0.476390839;MT-ND1:MT-ND3:5ldw:H:A:A64V:P46R:-0.38737:0.0742809325:-0.374820709;MT-ND1:MT-ND3:5ldw:H:A:A64V:P46L:-0.35931:0.0742809325:-0.427488327;MT-ND1:MT-ND3:5ldw:H:A:A64V:P46S:0.27905:0.0742809325:0.256430447;MT-ND1:MT-ND3:5ldw:H:A:A64V:S45F:0.27776:0.0742809325:0.122009657;MT-ND1:MT-ND3:5ldw:H:A:A64V:S45A:0.05852:0.0742809325:-0.0156085966;MT-ND1:MT-ND3:5ldw:H:A:A64V:S45P:-0.20191:0.0742809325:-0.288380057;MT-ND1:MT-ND3:5ldw:H:A:A64V:S45Y:0.48114:0.0742809325:0.377010345;MT-ND1:MT-ND3:5ldw:H:A:A64V:S45T:0.33199:0.0742809325:0.170780182;MT-ND1:MT-ND3:5ldw:H:A:A64V:S45C:-0.01284:0.0742809325:-0.0661293045;MT-ND1:MT-ND3:5ldx:H:A:A64V:P46H:-0.24645:-0.00509109488:-0.150340647;MT-ND1:MT-ND3:5ldx:H:A:A64V:P46A:0.1399:-0.00509109488:0.17194137;MT-ND1:MT-ND3:5ldx:H:A:A64V:P46T:0.18589:-0.00509109488:0.200049967;MT-ND1:MT-ND3:5ldx:H:A:A64V:P46R:-0.39214:-0.00509109488:-0.366769791;MT-ND1:MT-ND3:5ldx:H:A:A64V:P46L:-0.49799:-0.00509109488:-0.57003057;MT-ND1:MT-ND3:5ldx:H:A:A64V:P46S:0.19309:-0.00509109488:0.202388763;MT-ND1:MT-ND3:5ldx:H:A:A64V:S45F:0.50438:-0.00509109488:0.507999063;MT-ND1:MT-ND3:5ldx:H:A:A64V:S45A:0.55233:-0.00509109488:0.531179786;MT-ND1:MT-ND3:5ldx:H:A:A64V:S45P:0.60377:-0.00509109488:0.854759216;MT-ND1:MT-ND3:5ldx:H:A:A64V:S45Y:0.49392:-0.00509109488:0.507420719;MT-ND1:MT-ND3:5ldx:H:A:A64V:S45T:0.45066:-0.00509109488:0.424250036;MT-ND1:MT-ND3:5ldx:H:A:A64V:S45C:0.51522:-0.00509109488:0.429790109
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