10086 (A > T)

General info

Chr
chrM
Start
10086
End
10086
Ref
A
Alt
T
Mitimpact ID
MI.15019
Gene symbol
MT-ND3
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
28
AA pos
10
AA ref
N
AA alt
Y
Codon substitution
Aac/Tac
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Powered by MitoWheel

Conservation

PhyloP 100v
-10.98 Conservation Score
PhastCons 100v
0 Conservation Score

Pathogenicity predictors

PolyPhen2
Probably damaging Score and details of the predictor
SIFT
Neutral Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Deleterious Score and details of the predictor
Mutation Assessor
Medium impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Disease Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Neutral 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
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
Medium impact Score and details of the cancer-specific predictor
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Phenotypes

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

Residue interaction

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

Compensated Pathogenic Deviations

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

General info

Chr
chrM
Start
10086
End
10086
Ref
A
Alt
G
Mitimpact ID
MI.15020
Gene symbol
MT-ND3
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
28
AA pos
10
AA ref
N
AA alt
D
Codon substitution
Aac/Gac
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
-10.98 Conservation Score
PhastCons 100v
0 Conservation Score

Pathogenicity predictors

PolyPhen2
Possibly damaging Score and details of the predictor
SIFT
Deleterious Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Deleterious Score and details of the predictor
Mutation Assessor
Medium impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Disease Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Disease Score and details of the predictor
MitoClass 1
Damaging Score and details of the predictor
SNPDryad
Pathogenic 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
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
Benign
ClinVar March2020 ClnDBN
Leigh syndrome
ClinVar March2020 ClnAllele ID
680150
ClinVar March2020 ClnDSDB
Medgen:c0023264, omim:256000, orphanet:orpha506, snomed ct:29570005
MITOMAP Allele
MITOMAP Phenotype
Hypertensive end-stage renal disease
MITOMAP Homoplasmy
+
MITOMAP Heteroplasmy
-
MITOMAP Status
Reported
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
0.15 CPD variant frequency
AA ref
N
CPD AA alt
D
Aln pos
12
RefSeq protein ID
Species name
Propithecus coquereli
Ncbi taxon ID

10086 (A > C)

General info

Chr
chrM
Start
10086
End
10086
Ref
A
Alt
C
Mitimpact ID
MI.15021
Gene symbol
MT-ND3
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
28
AA pos
10
AA ref
N
AA alt
H
Codon substitution
Aac/Cac
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
-10.98 Conservation Score
PhastCons 100v
0 Conservation Score

Pathogenicity predictors

PolyPhen2
Probably damaging Score and details of the predictor
SIFT
Neutral Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Deleterious Score and details of the predictor
Mutation Assessor
Medium impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Disease Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Disease Score and details of the predictor
MitoClass 1
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
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
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
.

10087 (A > C)

General info

Chr
chrM
Start
10087
End
10087
Ref
A
Alt
C
Mitimpact ID
MI.15022
Gene symbol
MT-ND3
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
29
AA pos
10
AA ref
N
AA alt
T
Codon substitution
aAc/aCc
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
1.05 Conservation Score
PhastCons 100v
0.07 Conservation Score

Pathogenicity predictors

PolyPhen2
Probably damaging Score and details of the predictor
SIFT
Neutral Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Deleterious Score and details of the predictor
Mutation Assessor
Low impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
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
Pathogenic Score and details of the predictor

Pathogenicity meta-predictors

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

Cancer-specific predictors

PolyPhen2 transf
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
.

10087 (A > G)

General info

Chr
chrM
Start
10087
End
10087
Ref
A
Alt
G
Mitimpact ID
MI.15023
Gene symbol
MT-ND3
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
29
AA pos
10
AA ref
N
AA alt
S
Codon substitution
aAc/aGc
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
1.05 Conservation Score
PhastCons 100v
0.07 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
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

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

Cancer-specific predictors

PolyPhen2 transf
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
.

10087 (A > T)

General info

Chr
chrM
Start
10087
End
10087
Ref
A
Alt
T
Mitimpact ID
MI.15024
Gene symbol
MT-ND3
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
29
AA pos
10
AA ref
N
AA alt
I
Codon substitution
aAc/aTc
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
1.05 Conservation Score
PhastCons 100v
0.07 Conservation Score

Pathogenicity predictors

PolyPhen2
Probably damaging Score and details of the predictor
SIFT
Neutral Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Deleterious Score and details of the predictor
Mutation Assessor
Low impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Disease Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Neutral Score and details of the predictor
MitoClass 1
Neutral Score and details of the predictor
SNPDryad
Pathogenic Score and details of the predictor

Pathogenicity meta-predictors

APOGEE
Neutral Score and details of the meta-predictor
CAROL
Deleterious 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
Deleterious Score and details of the meta-predictor
DEOGEN2
Neutral Score and details of the meta-predictor

Cancer-specific predictors

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

Databases of Phenotypes

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

Residue interaction

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

Compensated Pathogenic Deviations

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

General info

Chr
chrM
Start
10088
End
10088
Ref
C
Alt
A
Mitimpact ID
MI.15025
Gene symbol
MT-ND3
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
30
AA pos
10
AA ref
N
AA alt
K
Codon substitution
aaC/aaA
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
2.67 Conservation Score
PhastCons 100v
0.15 Conservation Score

Pathogenicity predictors

PolyPhen2
Probably damaging Score and details of the predictor
SIFT
Deleterious Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Deleterious Score and details of the predictor
Mutation Assessor
Medium impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Disease Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Disease Score and details of the predictor
MitoClass 1
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
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
Medium impact Score and details of the cancer-specific predictor
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Phenotypes

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

Residue interaction

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

Compensated Pathogenic Deviations

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

General info

Chr
chrM
Start
10088
End
10088
Ref
C
Alt
G
Mitimpact ID
MI.15026
Gene symbol
MT-ND3
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
30
AA pos
10
AA ref
N
AA alt
K
Codon substitution
aaC/aaG
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
2.67 Conservation Score
PhastCons 100v
0.15 Conservation Score

Pathogenicity predictors

PolyPhen2
Probably damaging Score and details of the predictor
SIFT
Deleterious Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Deleterious Score and details of the predictor
Mutation Assessor
Medium impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Disease Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Disease Score and details of the predictor
MitoClass 1
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
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
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
.
~ 10086 (A/T) 10086 (A/G) 10086 (A/C) 10087 (A/C) 10087 (A/G) 10087 (A/T) 10088 (C/A) 10088 (C/G)
~ 10086 (Aac/Tac) 10086 (Aac/Gac) 10086 (Aac/Cac) 10087 (aAc/aCc) 10087 (aAc/aGc) 10087 (aAc/aTc) 10088 (aaC/aaA) 10088 (aaC/aaG)
Chr chrM chrM chrM chrM chrM chrM chrM chrM
Start 10086 10086 10086 10087 10087 10087 10088 10088
End 10086 10086 10086 10087 10087 10087 10088 10088
Ref A A A A A A C C
Alt T G C C G T A G
MitImpact id MI.15019 MI.15020 MI.15021 MI.15022 MI.15023 MI.15024 MI.15025 MI.15026
Gene symbol MT-ND3 MT-ND3 MT-ND3 MT-ND3 MT-ND3 MT-ND3 MT-ND3 MT-ND3
Respiratory Chain complex I I I I I I I I
Ensembl gene id ENSG00000198840 ENSG00000198840 ENSG00000198840 ENSG00000198840 ENSG00000198840 ENSG00000198840 ENSG00000198840 ENSG00000198840
Ensembl protein id ENSP00000355206 ENSP00000355206 ENSP00000355206 ENSP00000355206 ENSP00000355206 ENSP00000355206 ENSP00000355206 ENSP00000355206
Ensembl transcript id ENST00000361227 ENST00000361227 ENST00000361227 ENST00000361227 ENST00000361227 ENST00000361227 ENST00000361227 ENST00000361227
Uniprot name NU3M_HUMAN NU3M_HUMAN NU3M_HUMAN NU3M_HUMAN NU3M_HUMAN NU3M_HUMAN NU3M_HUMAN NU3M_HUMAN
Uniprot id P03897 P03897 P03897 P03897 P03897 P03897 P03897 P03897
Ncbi gene id 4537 4537 4537 4537 4537 4537 4537 4537
Ncbi protein id YP_003024033.1 YP_003024033.1 YP_003024033.1 YP_003024033.1 YP_003024033.1 YP_003024033.1 YP_003024033.1 YP_003024033.1
Gene position 28 28 28 29 29 29 30 30
AA position 10 10 10 10 10 10 10 10
AA ref N N N N N N N N
AA alt Y D H T S I K K
Codon substitution Aac/Tac Aac/Gac Aac/Cac aAc/aCc aAc/aGc aAc/aTc aaC/aaA aaC/aaG
PhyloP 100V -10.98 -10.98 -10.98 1.05 1.05 1.05 2.67 2.67
PhastCons 100V 0 0 0 0.07 0.07 0.07 0.15 0.15
PolyPhen2 probably_damaging possibly_damaging probably_damaging probably_damaging possibly_damaging probably_damaging probably_damaging probably_damaging
PolyPhen2 score 0.98 0.9 0.98 0.94 0.9 0.98 0.94 0.94
SIFT neutral deleterious neutral neutral neutral neutral deleterious deleterious
SIFT score 0.15 0.02 0.07 0.23 0.37 1 0.03 0.03
FatHmm neutral neutral neutral neutral neutral neutral neutral neutral
FatHmm score -0.47 -0.42 -0.86 0.75 1.01 0.95 0.52 0.52
FatHmmW neutral neutral neutral neutral neutral neutral neutral neutral
FatHmmW score 1.97 1.97 1.96 2.04 2.1 2.02 2.01 2.01
PROVEAN deleterious deleterious deleterious deleterious deleterious deleterious deleterious deleterious
PROVEAN score -6.14 -3.52 -3.9 -4.13 -3.38 -6.66 -4.5 -4.5
MutationAssessor medium impact medium impact medium impact low impact low impact low impact medium impact medium impact
MutationAssessor score 2.34 2.34 3.04 0.88 0.86 1.14 3.04 3.04
EFIN SP neutral neutral neutral neutral neutral neutral neutral neutral
EFIN SP score 0.84 0.96 0.83 0.77 0.78 0.82 0.83 0.83
EFIN HD neutral neutral neutral neutral neutral neutral neutral neutral
EFIN HD score 0.39 0.57 0.34 0.68 0.64 0.54 0.31 0.31
CADD deleterious deleterious deleterious neutral neutral deleterious deleterious deleterious
CADD score 3.44 2.47 2.84 1.31 1.37 3.73 4.09 3.64
CADD phred 23 19.3 21.6 12.34 12.66 23.3 23.7 23.2
VEST pvalue 0.14 0.44 0.34 0.29 0.42 0.16 0.37 0.37
VEST FDR 0.4 0.55 0.5 0.45 0.55 0.45 0.5 0.5
PANTHER neutral neutral neutral neutral neutral neutral neutral neutral
PANTHER score 0.45 0.23 0.38 0.19 0.16 0.34 0.17 0.17
PhD-SNP disease disease disease neutral neutral disease disease disease
PhD-SNP score 0.75 0.68 0.69 0.28 0.22 0.84 0.82 0.82
SNAP neutral disease disease neutral neutral neutral disease disease
SNAP score 0.5 0.57 0.58 0.23 0.29 0.3 0.58 0.58
Meta-SNP disease disease disease neutral neutral disease disease disease
Meta-SNP score 0.62 0.69 0.73 0.45 0.35 0.6 0.78 0.78
Meta-SNP RI 2 4 5 1 3 2 6 6
CAROL deleterious deleterious deleterious neutral neutral deleterious deleterious deleterious
CAROL score 0.99 0.99 0.99 0.95 0.9 0.98 0.99 0.99
Condel neutral neutral neutral neutral neutral deleterious neutral neutral
Condel score 0.09 0.06 0.05 0.15 0.24 0.51 0.05 0.05
COVEC WMV deleterious deleterious deleterious neutral neutral neutral deleterious deleterious
COVEC WMV score 1 4 1 -2 -3 -2 5 5
MtoolBox deleterious deleterious deleterious deleterious deleterious deleterious deleterious deleterious
MtoolBox DS 0.68 0.59 0.65 0.6 0.58 0.67 0.63 0.63
PolyPhen2 transf low impact low impact low impact low impact low impact low impact low impact low impact
PolyPhen2 transf score -2.24 -1.58 -2.24 -1.8 -1.58 -2.24 -1.8 -1.8
SIFT_transf medium impact medium impact medium impact medium impact medium impact high impact medium impact medium impact
SIFT transf score -0.23 -0.75 -0.43 -0.1 0.06 1.85 -0.65 -0.65
MutationAssessor transf medium impact medium impact medium impact medium impact medium impact medium impact medium impact medium impact
MutationAssessor transf score 1.04 1.04 1.68 -0.3 -0.32 -0.06 1.68 1.68
CHASM pvalue 0.33 0.28 0.26 0.3 0.27 0.24 0.41 0.41
CHASM FDR 0.8 0.8 0.8 0.8 0.8 0.8 0.8 0.8
APOGEE Neutral Pathogenic Neutral Neutral Neutral Neutral Neutral Neutral
APOGEE score 0.34 0.56 0.38 0.4 0.37 0.22 0.42 0.42
SNPDryad score 0.99 0.94 0.98 0.96 0.81 0.99 1 1
MutationTaster polymorphism polymorphism polymorphism polymorphism polymorphism polymorphism polymorphism polymorphism
MutationTaster score 1 1 1 1 1 1 1 1
DEOGEN2 score 0.11 0.1 0.1 0.1 0.09 0.11 0.1 0.1
Mitoclass.1 damaging damaging damaging neutral neutral neutral damaging damaging
dbSNP 153 id rs28358274 rs28358274 rs28358274 . . . . .
ClinVar March2020 ClinSig . Benign . . . . . .
ClinVar March2020 ClnDBN . Leigh_syndrome . . . . . .
ClinVar March2020 ClnAllele id . 680150 . . . . . .
ClinVar March2020 ClnDSDB . MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005 . . . . . .
COSMIC 90 . . . . . . . .
CPD Frequency . 0.15 . . . . . .
MITOMAP Allele . A10086G . . . . . .
MITOMAP Phenotype . Hypertensive end-stage renal disease . . . . . .
MITOMAP Homoplasmy . + . . . . . .
MITOMAP Heteroplasmy . - . . . . . .
MITOMAP Status . Reported . . . . . .
MITOMAP NRef . 4 . . . . . .
EVmutation MT-ND3_10N|11T:0.279235;14A:0.257447;21T:0.201914;109K:0.156388;81T:0.148862;12L:0.1465;18M:0.143412;27L:0.125761;17L:0.122564;93L:0.106498;78A:0.10349;26Q:0.093994;91S:0.083012;25P:0.079571;103A:0.074663;28N:0.073532;113W:0.072372;86L:0.06848;16L:0.067363 MT-ND3_10N|11T:0.279235;14A:0.257447;21T:0.201914;109K:0.156388;81T:0.148862;12L:0.1465;18M:0.143412;27L:0.125761;17L:0.122564;93L:0.106498;78A:0.10349;26Q:0.093994;91S:0.083012;25P:0.079571;103A:0.074663;28N:0.073532;113W:0.072372;86L:0.06848;16L:0.067363 MT-ND3_10N|11T:0.279235;14A:0.257447;21T:0.201914;109K:0.156388;81T:0.148862;12L:0.1465;18M:0.143412;27L:0.125761;17L:0.122564;93L:0.106498;78A:0.10349;26Q:0.093994;91S:0.083012;25P:0.079571;103A:0.074663;28N:0.073532;113W:0.072372;86L:0.06848;16L:0.067363 MT-ND3_10N|11T:0.279235;14A:0.257447;21T:0.201914;109K:0.156388;81T:0.148862;12L:0.1465;18M:0.143412;27L:0.125761;17L:0.122564;93L:0.106498;78A:0.10349;26Q:0.093994;91S:0.083012;25P:0.079571;103A:0.074663;28N:0.073532;113W:0.072372;86L:0.06848;16L:0.067363 MT-ND3_10N|11T:0.279235;14A:0.257447;21T:0.201914;109K:0.156388;81T:0.148862;12L:0.1465;18M:0.143412;27L:0.125761;17L:0.122564;93L:0.106498;78A:0.10349;26Q:0.093994;91S:0.083012;25P:0.079571;103A:0.074663;28N:0.073532;113W:0.072372;86L:0.06848;16L:0.067363 MT-ND3_10N|11T:0.279235;14A:0.257447;21T:0.201914;109K:0.156388;81T:0.148862;12L:0.1465;18M:0.143412;27L:0.125761;17L:0.122564;93L:0.106498;78A:0.10349;26Q:0.093994;91S:0.083012;25P:0.079571;103A:0.074663;28N:0.073532;113W:0.072372;86L:0.06848;16L:0.067363 MT-ND3_10N|11T:0.279235;14A:0.257447;21T:0.201914;109K:0.156388;81T:0.148862;12L:0.1465;18M:0.143412;27L:0.125761;17L:0.122564;93L:0.106498;78A:0.10349;26Q:0.093994;91S:0.083012;25P:0.079571;103A:0.074663;28N:0.073532;113W:0.072372;86L:0.06848;16L:0.067363 MT-ND3_10N|11T:0.279235;14A:0.257447;21T:0.201914;109K:0.156388;81T:0.148862;12L:0.1465;18M:0.143412;27L:0.125761;17L:0.122564;93L:0.106498;78A:0.10349;26Q:0.093994;91S:0.083012;25P:0.079571;103A:0.074663;28N:0.073532;113W:0.072372;86L:0.06848;16L:0.067363
Site A InterP ND3_10 ND3_10 ND3_10 ND3_10 ND3_10 ND3_10 ND3_10 ND3_10
Site B InterP ND1_305;ND1_144;ND4_279;ND4_268;ND4_280;ND4L_39;ND4L_73;ND6_51 ND1_305;ND1_144;ND4_279;ND4_268;ND4_280;ND4L_39;ND4L_73;ND6_51 ND1_305;ND1_144;ND4_279;ND4_268;ND4_280;ND4L_39;ND4L_73;ND6_51 ND1_305;ND1_144;ND4_279;ND4_268;ND4_280;ND4L_39;ND4L_73;ND6_51 ND1_305;ND1_144;ND4_279;ND4_268;ND4_280;ND4L_39;ND4L_73;ND6_51 ND1_305;ND1_144;ND4_279;ND4_268;ND4_280;ND4L_39;ND4L_73;ND6_51 ND1_305;ND1_144;ND4_279;ND4_268;ND4_280;ND4L_39;ND4L_73;ND6_51 ND1_305;ND1_144;ND4_279;ND4_268;ND4_280;ND4L_39;ND4L_73;ND6_51
Covariation Score InterP mfDCA_37.05;mfDCA_23.8;mfDCA_29.07;mfDCA_29.07;mfDCA_23.23;mfDCA_46.35;mfDCA_42.5;mfDCA_21.99 mfDCA_37.05;mfDCA_23.8;mfDCA_29.07;mfDCA_29.07;mfDCA_23.23;mfDCA_46.35;mfDCA_42.5;mfDCA_21.99 mfDCA_37.05;mfDCA_23.8;mfDCA_29.07;mfDCA_29.07;mfDCA_23.23;mfDCA_46.35;mfDCA_42.5;mfDCA_21.99 mfDCA_37.05;mfDCA_23.8;mfDCA_29.07;mfDCA_29.07;mfDCA_23.23;mfDCA_46.35;mfDCA_42.5;mfDCA_21.99 mfDCA_37.05;mfDCA_23.8;mfDCA_29.07;mfDCA_29.07;mfDCA_23.23;mfDCA_46.35;mfDCA_42.5;mfDCA_21.99 mfDCA_37.05;mfDCA_23.8;mfDCA_29.07;mfDCA_29.07;mfDCA_23.23;mfDCA_46.35;mfDCA_42.5;mfDCA_21.99 mfDCA_37.05;mfDCA_23.8;mfDCA_29.07;mfDCA_29.07;mfDCA_23.23;mfDCA_46.35;mfDCA_42.5;mfDCA_21.99 mfDCA_37.05;mfDCA_23.8;mfDCA_29.07;mfDCA_29.07;mfDCA_23.23;mfDCA_46.35;mfDCA_42.5;mfDCA_21.99
Site A IntraP ND3_10 ND3_10 ND3_10 ND3_10 ND3_10 ND3_10 ND3_10 ND3_10
Site B IntraP ND3_13;ND3_2;ND3_1;ND3_13 ND3_13;ND3_2;ND3_1;ND3_13 ND3_13;ND3_2;ND3_1;ND3_13 ND3_13;ND3_2;ND3_1;ND3_13 ND3_13;ND3_2;ND3_1;ND3_13 ND3_13;ND3_2;ND3_1;ND3_13 ND3_13;ND3_2;ND3_1;ND3_13 ND3_13;ND3_2;ND3_1;ND3_13
Covariation Score IntraP mfDCA_16.2715;mfDCA_18.0426;mfDCA_16.8171;mfDCA_16.2715 mfDCA_16.2715;mfDCA_18.0426;mfDCA_16.8171;mfDCA_16.2715 mfDCA_16.2715;mfDCA_18.0426;mfDCA_16.8171;mfDCA_16.2715 mfDCA_16.2715;mfDCA_18.0426;mfDCA_16.8171;mfDCA_16.2715 mfDCA_16.2715;mfDCA_18.0426;mfDCA_16.8171;mfDCA_16.2715 mfDCA_16.2715;mfDCA_18.0426;mfDCA_16.8171;mfDCA_16.2715 mfDCA_16.2715;mfDCA_18.0426;mfDCA_16.8171;mfDCA_16.2715 mfDCA_16.2715;mfDCA_18.0426;mfDCA_16.8171;mfDCA_16.2715
CPD AA ref . N . . . . . .
CPD AA alt . D . . . . . .
CPD Aln pos . 12 . . . . . .
CPD Species name . Propithecus coquereli . . . . . .
CPD RefSeq Protein ID . YP_002004588 . . . . . .
CPD Ncbi Taxon id . 379532 . . . . . .
DDG intra MT-ND3:N10Y:L13M:-0.731209:-0.754297:-0.0344781;MT-ND3:N10Y:L13R:0.21245:-0.754297:0.952128;MT-ND3:N10Y:L13V:0.686742:-0.754297:1.41472;MT-ND3:N10Y:L13P:3.98045:-0.754297:5.34847;MT-ND3:N10Y:L13Q:0.375097:-0.754297:1.11416 MT-ND3:N10D:L13Q:0.949085:-0.131219:1.11416;MT-ND3:N10D:L13V:1.29727:-0.131219:1.41472;MT-ND3:N10D:L13M:-0.115349:-0.131219:-0.0344781;MT-ND3:N10D:L13R:0.829787:-0.131219:0.952128;MT-ND3:N10D:L13P:4.9478:-0.131219:5.34847 MT-ND3:N10H:L13Q:0.972834:-0.0810654:1.11416;MT-ND3:N10H:L13R:0.87392:-0.0810654:0.952128;MT-ND3:N10H:L13V:1.34779:-0.0810654:1.41472;MT-ND3:N10H:L13M:-0.0484309:-0.0810654:-0.0344781;MT-ND3:N10H:L13P:4.74993:-0.0810654:5.34847 MT-ND3:N10T:L13Q:1.28158:0.201104:1.11416;MT-ND3:N10T:L13R:1.17029:0.201104:0.952128;MT-ND3:N10T:L13P:5.27428:0.201104:5.34847;MT-ND3:N10T:L13V:1.62251:0.201104:1.41472;MT-ND3:N10T:L13M:0.206991:0.201104:-0.0344781 MT-ND3:N10S:L13M:0.110302:0.0787259:-0.0344781;MT-ND3:N10S:L13V:1.50718:0.0787259:1.41472;MT-ND3:N10S:L13P:5.11937:0.0787259:5.34847;MT-ND3:N10S:L13Q:1.20433:0.0787259:1.11416;MT-ND3:N10S:L13R:1.03445:0.0787259:0.952128 MT-ND3:N10I:L13Q:0.58307:-0.481867:1.11416;MT-ND3:N10I:L13P:4.32645:-0.481867:5.34847;MT-ND3:N10I:L13V:0.918172:-0.481867:1.41472;MT-ND3:N10I:L13R:0.472396:-0.481867:0.952128;MT-ND3:N10I:L13M:-0.48696:-0.481867:-0.0344781 MT-ND3:N10K:L13Q:0.453672:-0.610655:1.11416;MT-ND3:N10K:L13M:-0.52605:-0.610655:-0.0344781;MT-ND3:N10K:L13R:0.395018:-0.610655:0.952128;MT-ND3:N10K:L13V:0.821744:-0.610655:1.41472;MT-ND3:N10K:L13P:4.51002:-0.610655:5.34847 MT-ND3:N10K:L13Q:0.453672:-0.610655:1.11416;MT-ND3:N10K:L13M:-0.52605:-0.610655:-0.0344781;MT-ND3:N10K:L13R:0.395018:-0.610655:0.952128;MT-ND3:N10K:L13V:0.821744:-0.610655:1.41472;MT-ND3:N10K:L13P:4.51002:-0.610655:5.34847
DDG intra interface MT-ND3:MT-ND1:5lc5:A:H:N10Y:N2D:-1.74348:-0.98804:0.02153;MT-ND3:MT-ND1:5lc5:A:H:N10Y:N2H:-1.06429:-0.98804:-0.15939;MT-ND3:MT-ND1:5lc5:A:H:N10Y:N2I:-0.84401:-0.98804:-0.30046;MT-ND3:MT-ND1:5lc5:A:H:N10Y:N2K:-2.04281:-0.98804:-0.39659;MT-ND3:MT-ND1:5lc5:A:H:N10Y:N2S:-1.79848:-0.98804:0.07383;MT-ND3:MT-ND1:5lc5:A:H:N10Y:N2T:-1.73987:-0.98804:0.04246;MT-ND3:MT-ND1:5lc5:A:H:N10Y:N2Y:-1.66542:-0.98804:-1.16395;MT-ND3:MT-ND1:5ldw:A:H:N10Y:N2D:-2.04095:-1.67045:-0.02208;MT-ND3:MT-ND1:5ldw:A:H:N10Y:N2H:-2.12456:-1.67045:-0.16726;MT-ND3:MT-ND1:5ldw:A:H:N10Y:N2I:-2.0948:-1.67045:-0.28811;MT-ND3:MT-ND1:5ldw:A:H:N10Y:N2K:-2.48052:-1.67045:-0.3758;MT-ND3:MT-ND1:5ldw:A:H:N10Y:N2S:-1.96355:-1.67045:0.0765;MT-ND3:MT-ND1:5ldw:A:H:N10Y:N2T:-1.9824:-1.67045:0.03795;MT-ND3:MT-ND1:5ldw:A:H:N10Y:N2Y:-3.35403:-1.67045:-1.30653;MT-ND3:MT-ND1:5ldx:A:H:N10Y:N2D:-1.59301:-1.65144:0.06599;MT-ND3:MT-ND1:5ldx:A:H:N10Y:N2H:-1.87091:-1.65144:-0.22309;MT-ND3:MT-ND1:5ldx:A:H:N10Y:N2I:-2.28846:-1.65144:-0.2603;MT-ND3:MT-ND1:5ldx:A:H:N10Y:N2K:-2.37662:-1.65144:-0.32806;MT-ND3:MT-ND1:5ldx:A:H:N10Y:N2S:-2.0388:-1.65144:0.16465;MT-ND3:MT-ND1:5ldx:A:H:N10Y:N2T:-1.87034:-1.65144:0.11107;MT-ND3:MT-ND1:5ldx:A:H:N10Y:N2Y:-2.70364:-1.65144:-1.1875 MT-ND3:MT-ND1:5lc5:A:H:N10D:N2D:1.92022:1.83785:0.02153;MT-ND3:MT-ND1:5lc5:A:H:N10D:N2H:1.68923:1.83785:-0.15939;MT-ND3:MT-ND1:5lc5:A:H:N10D:N2I:1.5658:1.83785:-0.30046;MT-ND3:MT-ND1:5lc5:A:H:N10D:N2K:1.43709:1.83785:-0.39659;MT-ND3:MT-ND1:5lc5:A:H:N10D:N2S:1.89407:1.83785:0.07383;MT-ND3:MT-ND1:5lc5:A:H:N10D:N2T:1.89719:1.83785:0.04246;MT-ND3:MT-ND1:5lc5:A:H:N10D:N2Y:0.61335:1.83785:-1.16395;MT-ND3:MT-ND1:5ldw:A:H:N10D:N2D:1.43189:1.47863:-0.02208;MT-ND3:MT-ND1:5ldw:A:H:N10D:N2H:1.32428:1.47863:-0.16726;MT-ND3:MT-ND1:5ldw:A:H:N10D:N2I:1.21783:1.47863:-0.28811;MT-ND3:MT-ND1:5ldw:A:H:N10D:N2K:1.00829:1.47863:-0.3758;MT-ND3:MT-ND1:5ldw:A:H:N10D:N2S:1.54713:1.47863:0.0765;MT-ND3:MT-ND1:5ldw:A:H:N10D:N2T:1.4876:1.47863:0.03795;MT-ND3:MT-ND1:5ldw:A:H:N10D:N2Y:0.04057:1.47863:-1.30653;MT-ND3:MT-ND1:5ldx:A:H:N10D:N2D:1.77531:1.75792:0.06599;MT-ND3:MT-ND1:5ldx:A:H:N10D:N2H:1.49392:1.75792:-0.22309;MT-ND3:MT-ND1:5ldx:A:H:N10D:N2I:1.4992:1.75792:-0.2603;MT-ND3:MT-ND1:5ldx:A:H:N10D:N2K:1.29042:1.75792:-0.32806;MT-ND3:MT-ND1:5ldx:A:H:N10D:N2S:1.84521:1.75792:0.16465;MT-ND3:MT-ND1:5ldx:A:H:N10D:N2T:1.79562:1.75792:0.11107;MT-ND3:MT-ND1:5ldx:A:H:N10D:N2Y:0.46121:1.75792:-1.1875 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DDG inter 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MT-ND3:MT-ND1:5lc5:A:H:N10K:V144G:1.661:0.559670269:1.03733063;MT-ND3:MT-ND1:5lc5:A:H:N10K:V144I:-0.16116:0.559670269:-0.425349414;MT-ND3:MT-ND1:5lc5:A:H:N10K:V144A:0.95416:0.559670269:0.477989584;MT-ND3:MT-ND1:5lc5:A:H:N10K:V144F:1.56466:0.559670269:0.667149723;MT-ND3:MT-ND1:5lc5:A:H:N10K:V144D:2.64491:0.559670269:2.00195003;MT-ND3:MT-ND1:5lc5:A:H:N10K:V144L:-2.06377:0.559670269:-2.40359163;MT-ND3:MT-ND1:5lc5:A:H:N10K:V305L:-0.77525:0.559670269:-1.39616168;MT-ND3:MT-ND1:5lc5:A:H:N10K:V305G:3.00747:0.559670269:2.66267157;MT-ND3:MT-ND1:5lc5:A:H:N10K:V305A:2.45861:0.559670269:1.90028071;MT-ND3:MT-ND1:5lc5:A:H:N10K:V305D:3.61004:0.559670269:3.12862015;MT-ND3:MT-ND1:5lc5:A:H:N10K:V305I:1.14103:0.559670269:0.511240363;MT-ND3:MT-ND1:5lc5:A:H:N10K:V305F:-1.5455:0.559670269:-2.1739502;MT-ND3:MT-ND1:5ldw:A:H:N10K:V144G:1.35738:-0.557247937:1.9026897;MT-ND3:MT-ND1:5ldw:A:H:N10K:V144I:-1.24705:-0.557247937:-0.742519736;MT-ND3:MT-ND1:5ldw:A:H:N10K:V144A:0.80985:-0.557247937:1.37451053;MT-ND3:MT-ND1:5ldw:A:H:N10K:V144F:0.30533:-0.557247937:1.16558003;MT-ND3:MT-ND1:5ldw:A:H:N10K:V144D:2.53392:-0.557247937:3.30468059;MT-ND3:MT-ND1:5ldw:A:H:N10K:V144L:-1.263:-0.557247937:-0.945389569;MT-ND3:MT-ND1:5ldw:A:H:N10K:V305L:-1.71841:-0.557247937:-1.10788035;MT-ND3:MT-ND1:5ldw:A:H:N10K:V305G:2.54434:-0.557247937:3.10235167;MT-ND3:MT-ND1:5ldw:A:H:N10K:V305A:1.65691:-0.557247937:2.19327092;MT-ND3:MT-ND1:5ldw:A:H:N10K:V305D:3.1055:-0.557247937:3.81080866;MT-ND3:MT-ND1:5ldw:A:H:N10K:V305I:0.75026:-0.557247937:1.48407102;MT-ND3:MT-ND1:5ldw:A:H:N10K:V305F:-2.25776:-0.557247937:-0.851601005;MT-ND3:MT-ND1:5ldx:A:H:N10K:V144G:0.9242:-0.983650565:1.83056986;MT-ND3:MT-ND1:5ldx:A:H:N10K:V144I:-1.46186:-0.983650565:-0.622790158;MT-ND3:MT-ND1:5ldx:A:H:N10K:V144A:0.50927:-0.983650565:1.45349884;MT-ND3:MT-ND1:5ldx:A:H:N10K:V144F:0.0192:-0.983650565:0.767220318;MT-ND3:MT-ND1:5ldx:A:H:N10K:V144D:2.16171:-0.983650565:3.1031003;MT-ND3:MT-ND1:5ldx:A:H:N10K:V144L:-2.04694:-0.983650565:-1.05275989;MT-ND3:MT-ND1:5ldx:A:H:N10K:V305L:-2.39057:-0.983650565:-1.41837955;MT-ND3:MT-ND1:5ldx:A:H:N10K:V305G:1.71797:-0.983650565:2.67550015;MT-ND3:MT-ND1:5ldx:A:H:N10K:V305A:1.00447:-0.983650565:1.99108887;MT-ND3:MT-ND1:5ldx:A:H:N10K:V305D:2.43713:-0.983650565:3.37083101;MT-ND3:MT-ND1:5ldx:A:H:N10K:V305I:-0.57668:-0.983650565:0.10269966;MT-ND3:MT-ND1:5ldx:A:H:N10K:V305F:-1.65306:-0.983650565:-1.10611987
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