3736 (G > C)

General info

Chr
chrM
Start
3736
End
3736
Ref
G
Alt
C
Mitimpact ID
MI.11644
Gene symbol
MT-ND1
Oxphos complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
430
AA position
144
AA ref
V
AA alt
L
Codon substitution
Gtc/Ctc
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Conservation

PhyloP 100v
4.58
PhastCons 100v
1

Pathogenicity predictors

PolyPhen2
Benign
PolyPhen2 score
0.39
SIFT
Neutral
SIFT score
0.61
FatHmm
Neutral
FatHmm score
-1.51
FatHMMW
Neutral
FatHMMW score
2.45
PROVEAN
Deleterious
PROVEAN score
-2.71
Mutation Assessor
Medium impact
Mutation Assessor score
2.62
EFIN SP
Neutral
EFIN SP score
0.72
EFIN HD
Neutral
EFIN HD score
0.49
VEST p-value
0.26
VEST FDR
0.45
PANTHER
Neutral
PANTHER score
0.18
PhD-SNP
Disease
PhD-SNP score
0.82
MutationTaster
Polymorphism
MutationTaster score
1
CADD
Neutral
CADD score
1.62
CADD phred
13.94
SNAP
Disease
SNAP score
0.57
MitoClass 1
Damaging
SNPDryad score
0.69

Pathogenicity meta-predictors

CAROL
Neutral
CAROL score
0.35
Condel
Deleterious
Condel score
0.61
COVEC WMV
Neutral
COVEC WMV score
-3
Meta SNP
Disease
Meta SNP score
0.66
Meta SNP RI
3
MtoolBox
Neutral
MtoolBox DS
0.34
APOGEE consensus
N
APOGEE mean p
0.52
DEOGEN score
0.12

Cancer-specific predictors

PolyPhen2 transf
Medium impact
PolyPhen2 transf score
-0.57
SIFT transf
Medium impact
SIFT transf score
0.38
MutationAssessor transf
Medium impact
MutationAssessor transf score
1.1
CHASM p-value
0.32
CHASM FDR
0.8

Residue interaction

EV Mutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Frequency & Phenotype DBs

ClinVar June2018 ClinSig
.
ClinVar June2018 ClnDBN
.
ClinVar June2018 ClnAllele ID
.
ClinVar June2018 ClnDSDB
.
Mitomap Allele
.
Mitomap Phenotype
.
Mitomap Homoplasmy
.
Mitomap Heteroplasmy
.
Mitomap Status
.
Mitomap NRef
.
COSMIC 87
.
Classification Clinvar
.
Classification Mitomap
.
Classification global
.
dbSNP 151 ID

Pathogenic variants, CPD

CPD candidate
.
CPD frequency
.
CPD AA ref
.
CPD AA alt
.
CPD aln pos
.
CPD RefSeq Protein ID
.
CPD Species name
.
CPD Ncbi Taxon ID
.

General info

Chr
chrM
Start
3736
End
3736
Ref
G
Alt
A
Mitimpact ID
MI.11645
Gene symbol
MT-ND1
Oxphos complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
430
AA position
144
AA ref
V
AA alt
I
Codon substitution
Gtc/Atc
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Conservation

PhyloP 100v
4.58
PhastCons 100v
1

Pathogenicity predictors

PolyPhen2
Benign
PolyPhen2 score
0.05
SIFT
Neutral
SIFT score
0.47
FatHmm
Neutral
FatHmm score
-0.5
FatHMMW
Neutral
FatHMMW score
2.66
PROVEAN
Neutral
PROVEAN score
-0.89
Mutation Assessor
Low impact
Mutation Assessor score
1.92
EFIN SP
Neutral
EFIN SP score
0.68
EFIN HD
Neutral
EFIN HD score
0.6
VEST p-value
0.41
VEST FDR
0.5
PANTHER
Neutral
PANTHER score
0.18
PhD-SNP
Disease
PhD-SNP score
0.58
MutationTaster
Polymorphism
MutationTaster score
1
CADD
Neutral
CADD score
1.68
CADD phred
14.29
SNAP
Neutral
SNAP score
0.31
MitoClass 1
Damaging
SNPDryad score
0.08

Pathogenicity meta-predictors

CAROL
Neutral
CAROL score
0.48
Condel
Deleterious
Condel score
0.71
COVEC WMV
Neutral
COVEC WMV score
-6
Meta SNP
Neutral
Meta SNP score
0.2
Meta SNP RI
6
MtoolBox
Neutral
MtoolBox DS
0.19
APOGEE consensus
P
APOGEE mean p
0.7
DEOGEN score
0.03

Cancer-specific predictors

PolyPhen2 transf
Medium impact
PolyPhen2 transf score
0.45
SIFT transf
Medium impact
SIFT transf score
0.25
MutationAssessor transf
Medium impact
MutationAssessor transf score
0.49
CHASM p-value
0.72
CHASM FDR
0.85

Residue interaction

EV Mutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Frequency & Phenotype DBs

ClinVar June2018 ClinSig
.
ClinVar June2018 ClnDBN
.
ClinVar June2018 ClnAllele ID
.
ClinVar June2018 ClnDSDB
.
Mitomap Allele
G3736a
Mitomap Phenotype
Lhon
Mitomap Homoplasmy
.
Mitomap Heteroplasmy
.
Mitomap Status
Reported
Mitomap NRef
1
COSMIC 87
Cosm6716703
Classification Clinvar
N
Classification Mitomap
P
Classification global
N, p
dbSNP 151 ID

Pathogenic variants, CPD

CPD candidate
Cpd
CPD frequency
0.89
CPD AA ref
V
CPD AA alt
I
CPD aln pos
145
CPD RefSeq Protein ID
Yp 003856721, yp 008379047, np 008225, np 114334, np 007835, yp 006883018
CPD Species name
Lepilemur hubbardorum, lepilemur ruficaudatus, pongo pygmaeus, macaca sylvanus, pongo abelii, nomascus gabriellae
CPD Ncbi Taxon ID
756882, 78866, 9600, 9546, 9601, 61852

3736 (G > T)

General info

Chr
chrM
Start
3736
End
3736
Ref
G
Alt
T
Mitimpact ID
MI.11646
Gene symbol
MT-ND1
Oxphos complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
430
AA position
144
AA ref
V
AA alt
F
Codon substitution
Gtc/Ttc
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Conservation

PhyloP 100v
4.58
PhastCons 100v
1

Pathogenicity predictors

PolyPhen2
Benign
PolyPhen2 score
0.11
SIFT
Neutral
SIFT score
0.54
FatHmm
Deleterious
FatHmm score
-4.24
FatHMMW
Neutral
FatHMMW score
2.25
PROVEAN
Deleterious
PROVEAN score
-4.54
Mutation Assessor
High impact
Mutation Assessor score
4.74
EFIN SP
Neutral
EFIN SP score
0.71
EFIN HD
Neutral
EFIN HD score
0.5
VEST p-value
0.03
VEST FDR
0.35
PANTHER
Neutral
PANTHER score
0.48
PhD-SNP
Disease
PhD-SNP score
0.93
MutationTaster
Polymorphism
MutationTaster score
1
CADD
Deleterious
CADD score
1.99
CADD phred
16.13
SNAP
Disease
SNAP score
0.65
MitoClass 1
Damaging
SNPDryad score
0.98

Pathogenicity meta-predictors

CAROL
Neutral
CAROL score
0.37
Condel
Deleterious
Condel score
0.72
COVEC WMV
Neutral
COVEC WMV score
-2
Meta SNP
Disease
Meta SNP score
0.75
Meta SNP RI
5
MtoolBox
Neutral
MtoolBox DS
0.33
APOGEE consensus
P
APOGEE mean p
0.66
DEOGEN score
0.15

Cancer-specific predictors

PolyPhen2 transf
Medium impact
PolyPhen2 transf score
0.1
SIFT transf
Medium impact
SIFT transf score
0.31
MutationAssessor transf
High impact
MutationAssessor transf score
2.95
CHASM p-value
0.28
CHASM FDR
0.8

Residue interaction

EV Mutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Frequency & Phenotype DBs

ClinVar June2018 ClinSig
.
ClinVar June2018 ClnDBN
.
ClinVar June2018 ClnAllele ID
.
ClinVar June2018 ClnDSDB
.
Mitomap Allele
.
Mitomap Phenotype
.
Mitomap Homoplasmy
.
Mitomap Heteroplasmy
.
Mitomap Status
.
Mitomap NRef
.
COSMIC 87
.
Classification Clinvar
.
Classification Mitomap
.
Classification global
.
dbSNP 151 ID

Pathogenic variants, CPD

CPD candidate
.
CPD frequency
.
CPD AA ref
.
CPD AA alt
.
CPD aln pos
.
CPD RefSeq Protein ID
.
CPD Species name
.
CPD Ncbi Taxon ID
.

3737 (T > C)

General info

Chr
chrM
Start
3737
End
3737
Ref
T
Alt
C
Mitimpact ID
MI.11647
Gene symbol
MT-ND1
Oxphos complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
431
AA position
144
AA ref
V
AA alt
A
Codon substitution
gTc/gCc
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Conservation

PhyloP 100v
7.11
PhastCons 100v
1

Pathogenicity predictors

PolyPhen2
Possibly damaging
PolyPhen2 score
0.64
SIFT
Neutral
SIFT score
0.65
FatHmm
Deleterious
FatHmm score
-3.66
FatHMMW
Neutral
FatHMMW score
2.27
PROVEAN
Deleterious
PROVEAN score
-3.63
Mutation Assessor
Medium impact
Mutation Assessor score
3.1
EFIN SP
Neutral
EFIN SP score
0.7
EFIN HD
Neutral
EFIN HD score
0.57
VEST p-value
0.08
VEST FDR
0.35
PANTHER
Neutral
PANTHER score
0.37
PhD-SNP
Disease
PhD-SNP score
0.65
MutationTaster
Polymorphism
MutationTaster score
1
CADD
Neutral
CADD score
1.73
CADD phred
14.6
SNAP
Disease
SNAP score
0.61
MitoClass 1
Damaging
SNPDryad score
0.87

Pathogenicity meta-predictors

CAROL
Neutral
CAROL score
0.57
Condel
Deleterious
Condel score
0.51
COVEC WMV
.
COVEC WMV score
0
Meta SNP
Disease
Meta SNP score
0.65
Meta SNP RI
3
MtoolBox
Deleterious
MtoolBox DS
0.54
APOGEE consensus
P
APOGEE mean p
0.59
DEOGEN score
0.13

Cancer-specific predictors

PolyPhen2 transf
Medium impact
PolyPhen2 transf score
-0.99
SIFT transf
Medium impact
SIFT transf score
0.43
MutationAssessor transf
Medium impact
MutationAssessor transf score
1.52
CHASM p-value
0.11
CHASM FDR
0.8

Residue interaction

EV Mutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Frequency & Phenotype DBs

ClinVar June2018 ClinSig
.
ClinVar June2018 ClnDBN
.
ClinVar June2018 ClnAllele ID
.
ClinVar June2018 ClnDSDB
.
Mitomap Allele
.
Mitomap Phenotype
.
Mitomap Homoplasmy
.
Mitomap Heteroplasmy
.
Mitomap Status
.
Mitomap NRef
.
COSMIC 87
.
Classification Clinvar
.
Classification Mitomap
.
Classification global
.
dbSNP 151 ID

Pathogenic variants, CPD

CPD candidate
.
CPD frequency
.
CPD AA ref
.
CPD AA alt
.
CPD aln pos
.
CPD RefSeq Protein ID
.
CPD Species name
.
CPD Ncbi Taxon ID
.

3737 (T > G)

General info

Chr
chrM
Start
3737
End
3737
Ref
T
Alt
G
Mitimpact ID
MI.11648
Gene symbol
MT-ND1
Oxphos complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
431
AA position
144
AA ref
V
AA alt
G
Codon substitution
gTc/gGc
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Conservation

PhyloP 100v
7.11
PhastCons 100v
1

Pathogenicity predictors

PolyPhen2
Probably damaging
PolyPhen2 score
0.93
SIFT
Neutral
SIFT score
0.28
FatHmm
Deleterious
FatHmm score
-5.79
FatHMMW
Neutral
FatHMMW score
2.23
PROVEAN
Deleterious
PROVEAN score
-6.36
Mutation Assessor
High impact
Mutation Assessor score
4.18
EFIN SP
Neutral
EFIN SP score
0.79
EFIN HD
Neutral
EFIN HD score
0.57
VEST p-value
0.01
VEST FDR
0.35
PANTHER
Disease
PANTHER score
0.62
PhD-SNP
Disease
PhD-SNP score
0.87
MutationTaster
Polymorphism
MutationTaster score
1
CADD
Deleterious
CADD score
2.22
CADD phred
17.61
SNAP
Disease
SNAP score
0.65
MitoClass 1
Damaging
SNPDryad score
0.96

Pathogenicity meta-predictors

CAROL
Neutral
CAROL score
0.94
Condel
Neutral
Condel score
0.18
COVEC WMV
Deleterious
COVEC WMV score
2
Meta SNP
Disease
Meta SNP score
0.71
Meta SNP RI
4
MtoolBox
Deleterious
MtoolBox DS
0.76
APOGEE consensus
P
APOGEE mean p
0.63
DEOGEN score
0.2

Cancer-specific predictors

PolyPhen2 transf
Low impact
PolyPhen2 transf score
-1.81
SIFT transf
Medium impact
SIFT transf score
0.05
MutationAssessor transf
High impact
MutationAssessor transf score
2.46
CHASM p-value
0.31
CHASM FDR
0.8

Residue interaction

EV Mutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Frequency & Phenotype DBs

ClinVar June2018 ClinSig
.
ClinVar June2018 ClnDBN
.
ClinVar June2018 ClnAllele ID
.
ClinVar June2018 ClnDSDB
.
Mitomap Allele
.
Mitomap Phenotype
.
Mitomap Homoplasmy
.
Mitomap Heteroplasmy
.
Mitomap Status
.
Mitomap NRef
.
COSMIC 87
.
Classification Clinvar
.
Classification Mitomap
.
Classification global
.
dbSNP 151 ID

Pathogenic variants, CPD

CPD candidate
.
CPD frequency
.
CPD AA ref
.
CPD AA alt
.
CPD aln pos
.
CPD RefSeq Protein ID
.
CPD Species name
.
CPD Ncbi Taxon ID
.

3737 (T > A)

General info

Chr
chrM
Start
3737
End
3737
Ref
T
Alt
A
Mitimpact ID
MI.11649
Gene symbol
MT-ND1
Oxphos complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
431
AA position
144
AA ref
V
AA alt
D
Codon substitution
gTc/gAc
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Conservation

PhyloP 100v
7.11
PhastCons 100v
1

Pathogenicity predictors

PolyPhen2
Probably damaging
PolyPhen2 score
0.95
SIFT
Neutral
SIFT score
0.16
FatHmm
Deleterious
FatHmm score
-6.38
FatHMMW
Neutral
FatHMMW score
2.22
PROVEAN
Deleterious
PROVEAN score
-6.36
Mutation Assessor
High impact
Mutation Assessor score
4.74
EFIN SP
Neutral
EFIN SP score
0.73
EFIN HD
Neutral
EFIN HD score
0.49
VEST p-value
0.01
VEST FDR
0.35
PANTHER
Disease
PANTHER score
0.73
PhD-SNP
Disease
PhD-SNP score
0.92
MutationTaster
Polymorphism
MutationTaster score
1
CADD
Deleterious
CADD score
4.21
CADD phred
23.9
SNAP
Disease
SNAP score
0.74
MitoClass 1
Damaging
SNPDryad score
0.99

Pathogenicity meta-predictors

CAROL
Neutral
CAROL score
0.97
Condel
Neutral
Condel score
0.11
COVEC WMV
Deleterious
COVEC WMV score
2
Meta SNP
Disease
Meta SNP score
0.73
Meta SNP RI
5
MtoolBox
Deleterious
MtoolBox DS
0.85
APOGEE consensus
P
APOGEE mean p
0.71
DEOGEN score
0.37

Cancer-specific predictors

PolyPhen2 transf
Low impact
PolyPhen2 transf score
-1.95
SIFT transf
Medium impact
SIFT transf score
-0.13
MutationAssessor transf
High impact
MutationAssessor transf score
2.95
CHASM p-value
0.14
CHASM FDR
0.8

Residue interaction

EV Mutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Frequency & Phenotype DBs

ClinVar June2018 ClinSig
.
ClinVar June2018 ClnDBN
.
ClinVar June2018 ClnAllele ID
.
ClinVar June2018 ClnDSDB
.
Mitomap Allele
.
Mitomap Phenotype
.
Mitomap Homoplasmy
.
Mitomap Heteroplasmy
.
Mitomap Status
.
Mitomap NRef
.
COSMIC 87
.
Classification Clinvar
.
Classification Mitomap
.
Classification global
.
dbSNP 151 ID

Pathogenic variants, CPD

CPD candidate
.
CPD frequency
.
CPD AA ref
.
CPD AA alt
.
CPD aln pos
.
CPD RefSeq Protein ID
.
CPD Species name
.
CPD Ncbi Taxon ID
.
~ 3736 (G/C) 3736 (G/A) 3736 (G/T) 3737 (T/C) 3737 (T/G) 3737 (T/A)
~ 3736 (Gtc/Ctc) 3736 (Gtc/Atc) 3736 (Gtc/Ttc) 3737 (gTc/gCc) 3737 (gTc/gGc) 3737 (gTc/gAc)
Chr chrM chrM chrM chrM chrM chrM
Start 3736 3736 3736 3737 3737 3737
End 3736 3736 3736 3737 3737 3737
Ref G G G T T T
Alt C A T C G A
MitImpact id MI.11644 MI.11645 MI.11646 MI.11647 MI.11648 MI.11649
Gene symbol MT-ND1 MT-ND1 MT-ND1 MT-ND1 MT-ND1 MT-ND1
OXPHOS 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 430 430 430 431 431 431
AA position 144 144 144 144 144 144
AA ref V V V V V V
AA alt L I F A G D
Codon substitution Gtc/Ctc Gtc/Atc Gtc/Ttc gTc/gCc gTc/gGc gTc/gAc
PhyloP 100V 4.58 4.58 4.58 7.11 7.11 7.11
PhastCons 100V 1 1 1 1 1 1
PolyPhen2 benign benign benign possibly_damaging probably_damaging probably_damaging
PolyPhen2 score 0.39 0.05 0.11 0.64 0.93 0.95
SIFT neutral neutral neutral neutral neutral neutral
SIFT score 0.61 0.47 0.54 0.65 0.28 0.16
FatHmm neutral neutral deleterious deleterious deleterious deleterious
FatHmm score -1.51 -0.5 -4.24 -3.66 -5.79 -6.38
FatHmmW neutral neutral neutral neutral neutral neutral
FatHmmW score 2.45 2.66 2.25 2.27 2.23 2.22
PROVEAN deleterious neutral deleterious deleterious deleterious deleterious
PROVEAN score -2.71 -0.89 -4.54 -3.63 -6.36 -6.36
MutationAssessor medium impact low impact high impact medium impact high impact high impact
MutationAssessor score 2.62 1.92 4.74 3.1 4.18 4.74
EFIN SP neutral neutral neutral neutral neutral neutral
EFIN SP score 0.72 0.68 0.71 0.7 0.79 0.73
EFIN HD neutral neutral neutral neutral neutral neutral
EFIN HD score 0.49 0.6 0.5 0.57 0.57 0.49
CADD neutral neutral deleterious neutral deleterious deleterious
CADD score 1.62 1.68 1.99 1.73 2.22 4.21
CADD phred 13.94 14.29 16.13 14.6 17.61 23.9
VEST pvalue 0.26 0.41 0.03 0.08 0.01 0.01
VEST FDR 0.45 0.5 0.35 0.35 0.35 0.35
PANTHER neutral neutral neutral neutral disease disease
PANTHER score 0.18 0.18 0.48 0.37 0.62 0.73
PhD-SNP disease disease disease disease disease disease
PhD-SNP score 0.82 0.58 0.93 0.65 0.87 0.92
SNAP disease neutral disease disease disease disease
SNAP score 0.57 0.31 0.65 0.61 0.65 0.74
Meta-SNP disease neutral disease disease disease disease
Meta-SNP score 0.66 0.2 0.75 0.65 0.71 0.73
Meta-SNP RI 3 6 5 3 4 5
CAROL neutral neutral neutral neutral neutral neutral
CAROL score 0.35 0.48 0.37 0.57 0.94 0.97
Condel deleterious deleterious deleterious deleterious neutral neutral
Condel score 0.61 0.71 0.72 0.51 0.18 0.11
COVEC WMV neutral neutral neutral . deleterious deleterious
COVEC WMV score -3 -6 -2 0 2 2
MtoolBox neutral neutral neutral deleterious deleterious deleterious
MtoolBox DS 0.34 0.19 0.33 0.54 0.76 0.85
PolyPhen2 transf medium impact medium impact medium impact medium impact low impact low impact
PolyPhen2 transf score -0.57 0.45 0.1 -0.99 -1.81 -1.95
SIFT_transf medium impact medium impact medium impact medium impact medium impact medium impact
SIFT transf score 0.38 0.25 0.31 0.43 0.05 -0.13
MutationAssessor transf medium impact medium impact high impact medium impact high impact high impact
MutationAssessor transf score 1.1 0.49 2.95 1.52 2.46 2.95
CHASM pvalue 0.32 0.72 0.28 0.11 0.31 0.14
CHASM FDR 0.8 0.85 0.8 0.8 0.8 0.8
APOGEE bootstrap consensus N P P P P P
APOGEE bootstrap mean probability (mp) 0.52 0.7 0.66 0.59 0.63 0.71
SNPDryad score 0.69 0.08 0.98 0.87 0.96 0.99
MutationTaster polymorphism polymorphism polymorphism polymorphism polymorphism polymorphism
MutationTaster score 1 1 1 1 1 1
DEOGEN score 0.12 0.03 0.15 0.13 0.2 0.37
Mitoclass.1 damaging damaging damaging damaging damaging damaging
dbSNP 151 id . rs201513497 . . . .
ClinVar June2018 ClinSig . . . . . .
ClinVar June2018 ClnDBN . . . . . .
ClinVar June2018 ClnAllele id . . . . . .
ClinVar June2018 ClnDSDB . . . . . .
COSMIC 87 . COSM6716703 . . . .
CPD candidate . CPD . . . .
CPD frequency . 0.89 . . . .
Mitomap Allele . G3736A . . . .
Mitomap Phenotype . LHON . . . .
Mitomap Homoplasmy . . . . . .
Mitomap Heteroplasmy . . . . . .
Mitomap Status . Reported . . . .
Mitomap NRef . 1 . . . .
Classification Clinvar . N . . . .
Classification Mitomap . P . . . .
Classification Global . N,P . . . .
Classification Global . N,P . . . .
EV Mutation MT-ND1_144V|145T:0.199006;294L:0.154717;301L:0.09302;148I:0.084539;278P:0.069915;191A:0.065596 MT-ND1_144V|145T:0.199006;294L:0.154717;301L:0.09302;148I:0.084539;278P:0.069915;191A:0.065596 MT-ND1_144V|145T:0.199006;294L:0.154717;301L:0.09302;148I:0.084539;278P:0.069915;191A:0.065596 MT-ND1_144V|145T:0.199006;294L:0.154717;301L:0.09302;148I:0.084539;278P:0.069915;191A:0.065596 MT-ND1_144V|145T:0.199006;294L:0.154717;301L:0.09302;148I:0.084539;278P:0.069915;191A:0.065596 MT-ND1_144V|145T:0.199006;294L:0.154717;301L:0.09302;148I:0.084539;278P:0.069915;191A:0.065596
Site A InterP ND1_144 ND1_144 ND1_144 ND1_144 ND1_144 ND1_144
Site B InterP ND3_10;ND6_116;ND6_109 ND3_10;ND6_116;ND6_109 ND3_10;ND6_116;ND6_109 ND3_10;ND6_116;ND6_109 ND3_10;ND6_116;ND6_109 ND3_10;ND6_116;ND6_109
Covariation Score InterP mfDCA:23.8022;mfDCA:24.2579;mfDCA:22.0841 mfDCA:23.8022;mfDCA:24.2579;mfDCA:22.0841 mfDCA:23.8022;mfDCA:24.2579;mfDCA:22.0841 mfDCA:23.8022;mfDCA:24.2579;mfDCA:22.0841 mfDCA:23.8022;mfDCA:24.2579;mfDCA:22.0841 mfDCA:23.8022;mfDCA:24.2579;mfDCA:22.0841
Site A IntraP . . . . . .
Site B IntraP . . . . . .
Covariation Score IntraP . . . . . .
CPD AA ref . V . . . .
CPD AA alt . I . . . .
CPD aln pos . 145 . . . .
CPD Species name . Lepilemur hubbardorum,Lepilemur ruficaudatus,Pongo pygmaeus,Macaca sylvanus,Pongo abelii,Nomascus gabriellae . . . .
CPD RefSeq Protein ID . YP_003856721,YP_008379047,NP_008225,NP_114334,NP_007835,YP_006883018 . . . .
CPD Ncbi Taxon ID . 756882,78866,9600,9546,9601,61852 . . . .
DDG intra . . . . . .
DDG intra interface . . . . . .
DDG inter MT-ND1:MT-ND3:5lc5:H:A:V144L:N10D:-0.41196:-2.40359163:1.9348892;MT-ND1:MT-ND3:5lc5:H:A:V144L:N10T:-3.0952:-2.40359163:-0.845690131;MT-ND1:MT-ND3:5lc5:H:A:V144L:N10H:-3.18939:-2.40359163:-0.468639374;MT-ND1:MT-ND3:5lc5:H:A:V144L:N10K:-2.06377:-2.40359163:0.559670269;MT-ND1:MT-ND3:5lc5:H:A:V144L:N10Y:-2.80684:-2.40359163:-1.04049873;MT-ND1:MT-ND3:5lc5:H:A:V144L:N10I:-2.86892:-2.40359163:-0.200120538;MT-ND1:MT-ND3:5lc5:H:A:V144L:N10S:-1.30784:-2.40359163:1.00994909;MT-ND1:MT-ND3:5ldw:H:A:V144L:N10D:0.5791:-0.945389569:1.56138194;MT-ND1:MT-ND3:5ldw:H:A:V144L:N10T:-1.89848:-0.945389569:-0.944197059;MT-ND1:MT-ND3:5ldw:H:A:V144L:N10H:-2.28821:-0.945389569:-1.41110837;MT-ND1:MT-ND3:5ldw:H:A:V144L:N10K:-1.263:-0.945389569:-0.557247937;MT-ND1:MT-ND3:5ldw:H:A:V144L:N10Y:-2.68569:-0.945389569:-1.868029;MT-ND1:MT-ND3:5ldw:H:A:V144L:N10I:-2.92276:-0.945389569:-1.98465884;MT-ND1:MT-ND3:5ldw:H:A:V144L:N10S:-0.19617:-0.945389569:0.722851157;MT-ND1:MT-ND3:5ldx:H:A:V144L:N10D:0.66908:-1.05275989:1.77093887;MT-ND1:MT-ND3:5ldx:H:A:V144L:N10T:-1.6146:-1.05275989:-0.727460086;MT-ND1:MT-ND3:5ldx:H:A:V144L:N10H:-2.23498:-1.05275989:-1.23474002;MT-ND1:MT-ND3:5ldx:H:A:V144L:N10K:-2.04694:-1.05275989:-0.983650565;MT-ND1:MT-ND3:5ldx:H:A:V144L:N10Y:-3.41559:-1.05275989:-1.7146492;MT-ND1:MT-ND3:5ldx:H:A:V144L:N10I:-2.75453:-1.05275989:-1.75487101;MT-ND1:MT-ND3:5ldx:H:A:V144L:N10S:-0.09797:-1.05275989:0.834559619 MT-ND1:MT-ND3:5lc5:H:A:V144I:N10H:-0.84139:-0.425349414:-0.468639374;MT-ND1:MT-ND3:5lc5:H:A:V144I:N10K:-0.16116:-0.425349414:0.559670269;MT-ND1:MT-ND3:5lc5:H:A:V144I:N10S:0.5813:-0.425349414:1.00994909;MT-ND1:MT-ND3:5lc5:H:A:V144I:N10I:-0.54679:-0.425349414:-0.200120538;MT-ND1:MT-ND3:5lc5:H:A:V144I:N10T:-1.33442:-0.425349414:-0.845690131;MT-ND1:MT-ND3:5lc5:H:A:V144I:N10D:1.4578:-0.425349414:1.9348892;MT-ND1:MT-ND3:5lc5:H:A:V144I:N10Y:-0.55928:-0.425349414:-1.04049873;MT-ND1:MT-ND3:5ldw:H:A:V144I:N10H:-2.16077:-0.742519736:-1.41110837;MT-ND1:MT-ND3:5ldw:H:A:V144I:N10K:-1.24705:-0.742519736:-0.557247937;MT-ND1:MT-ND3:5ldw:H:A:V144I:N10S:-0.02027:-0.742519736:0.722851157;MT-ND1:MT-ND3:5ldw:H:A:V144I:N10I:-2.80958:-0.742519736:-1.98465884;MT-ND1:MT-ND3:5ldw:H:A:V144I:N10T:-1.76381:-0.742519736:-0.944197059;MT-ND1:MT-ND3:5ldw:H:A:V144I:N10D:0.76455:-0.742519736:1.56138194;MT-ND1:MT-ND3:5ldw:H:A:V144I:N10Y:-2.80113:-0.742519736:-1.868029;MT-ND1:MT-ND3:5ldx:H:A:V144I:N10H:-1.89614:-0.622790158:-1.23474002;MT-ND1:MT-ND3:5ldx:H:A:V144I:N10K:-1.46186:-0.622790158:-0.983650565;MT-ND1:MT-ND3:5ldx:H:A:V144I:N10S:0.27821:-0.622790158:0.834559619;MT-ND1:MT-ND3:5ldx:H:A:V144I:N10I:-2.35861:-0.622790158:-1.75487101;MT-ND1:MT-ND3:5ldx:H:A:V144I:N10T:-1.25017:-0.622790158:-0.727460086;MT-ND1:MT-ND3:5ldx:H:A:V144I:N10D:1.20721:-0.622790158:1.77093887;MT-ND1:MT-ND3:5ldx:H:A:V144I:N10Y:-2.90714:-0.622790158:-1.7146492 MT-ND1:MT-ND3:5lc5:H:A:V144F:N10K:1.56466:0.667149723:0.559670269;MT-ND1:MT-ND3:5lc5:H:A:V144F:N10T:0.04708:0.667149723:-0.845690131;MT-ND1:MT-ND3:5lc5:H:A:V144F:N10H:-0.04231:0.667149723:-0.468639374;MT-ND1:MT-ND3:5lc5:H:A:V144F:N10Y:-0.30979:0.667149723:-1.04049873;MT-ND1:MT-ND3:5lc5:H:A:V144F:N10S:1.74823:0.667149723:1.00994909;MT-ND1:MT-ND3:5lc5:H:A:V144F:N10I:0.1666:0.667149723:-0.200120538;MT-ND1:MT-ND3:5lc5:H:A:V144F:N10D:2.6989:0.667149723:1.9348892;MT-ND1:MT-ND3:5ldw:H:A:V144F:N10K:0.30533:1.16558003:-0.557247937;MT-ND1:MT-ND3:5ldw:H:A:V144F:N10T:0.12131:1.16558003:-0.944197059;MT-ND1:MT-ND3:5ldw:H:A:V144F:N10H:-0.32227:1.16558003:-1.41110837;MT-ND1:MT-ND3:5ldw:H:A:V144F:N10Y:-0.82489:1.16558003:-1.868029;MT-ND1:MT-ND3:5ldw:H:A:V144F:N10S:1.81696:1.16558003:0.722851157;MT-ND1:MT-ND3:5ldw:H:A:V144F:N10I:-1.08114:1.16558003:-1.98465884;MT-ND1:MT-ND3:5ldw:H:A:V144F:N10D:2.45502:1.16558003:1.56138194;MT-ND1:MT-ND3:5ldx:H:A:V144F:N10K:0.0192:0.767220318:-0.983650565;MT-ND1:MT-ND3:5ldx:H:A:V144F:N10T:0.0218:0.767220318:-0.727460086;MT-ND1:MT-ND3:5ldx:H:A:V144F:N10H:-0.54073:0.767220318:-1.23474002;MT-ND1:MT-ND3:5ldx:H:A:V144F:N10Y:-1.89816:0.767220318:-1.7146492;MT-ND1:MT-ND3:5ldx:H:A:V144F:N10S:1.68158:0.767220318:0.834559619;MT-ND1:MT-ND3:5ldx:H:A:V144F:N10I:-0.86444:0.767220318:-1.75487101;MT-ND1:MT-ND3:5ldx:H:A:V144F:N10D:2.41322:0.767220318:1.77093887 MT-ND1:MT-ND3:5lc5:H:A:V144A:N10S:1.5254:0.477989584:1.00994909;MT-ND1:MT-ND3:5lc5:H:A:V144A:N10K:0.95416:0.477989584:0.559670269;MT-ND1:MT-ND3:5lc5:H:A:V144A:N10D:2.40856:0.477989584:1.9348892;MT-ND1:MT-ND3:5lc5:H:A:V144A:N10Y:-0.01481:0.477989584:-1.04049873;MT-ND1:MT-ND3:5lc5:H:A:V144A:N10T:-0.32927:0.477989584:-0.845690131;MT-ND1:MT-ND3:5lc5:H:A:V144A:N10H:-0.34081:0.477989584:-0.468639374;MT-ND1:MT-ND3:5lc5:H:A:V144A:N10I:0.26565:0.477989584:-0.200120538;MT-ND1:MT-ND3:5ldw:H:A:V144A:N10S:2.08637:1.37451053:0.722851157;MT-ND1:MT-ND3:5ldw:H:A:V144A:N10K:0.80985:1.37451053:-0.557247937;MT-ND1:MT-ND3:5ldw:H:A:V144A:N10D:2.94017:1.37451053:1.56138194;MT-ND1:MT-ND3:5ldw:H:A:V144A:N10Y:-0.45072:1.37451053:-1.868029;MT-ND1:MT-ND3:5ldw:H:A:V144A:N10T:0.39451:1.37451053:-0.944197059;MT-ND1:MT-ND3:5ldw:H:A:V144A:N10H:-0.04321:1.37451053:-1.41110837;MT-ND1:MT-ND3:5ldw:H:A:V144A:N10I:-0.57641:1.37451053:-1.98465884;MT-ND1:MT-ND3:5ldx:H:A:V144A:N10S:2.27043:1.45349884:0.834559619;MT-ND1:MT-ND3:5ldx:H:A:V144A:N10K:0.50927:1.45349884:-0.983650565;MT-ND1:MT-ND3:5ldx:H:A:V144A:N10D:3.18168:1.45349884:1.77093887;MT-ND1:MT-ND3:5ldx:H:A:V144A:N10Y:-0.508:1.45349884:-1.7146492;MT-ND1:MT-ND3:5ldx:H:A:V144A:N10T:0.7206:1.45349884:-0.727460086;MT-ND1:MT-ND3:5ldx:H:A:V144A:N10H:0.22963:1.45349884:-1.23474002;MT-ND1:MT-ND3:5ldx:H:A:V144A:N10I:-0.33633:1.45349884:-1.75487101 MT-ND1:MT-ND3:5lc5:H:A:V144G:N10I:0.36105:1.03733063:-0.200120538;MT-ND1:MT-ND3:5lc5:H:A:V144G:N10K:1.661:1.03733063:0.559670269;MT-ND1:MT-ND3:5lc5:H:A:V144G:N10D:3.01504:1.03733063:1.9348892;MT-ND1:MT-ND3:5lc5:H:A:V144G:N10H:0.60091:1.03733063:-0.468639374;MT-ND1:MT-ND3:5lc5:H:A:V144G:N10T:0.29826:1.03733063:-0.845690131;MT-ND1:MT-ND3:5lc5:H:A:V144G:N10S:2.20028:1.03733063:1.00994909;MT-ND1:MT-ND3:5lc5:H:A:V144G:N10Y:0.12207:1.03733063:-1.04049873;MT-ND1:MT-ND3:5ldw:H:A:V144G:N10I:-0.14854:1.9026897:-1.98465884;MT-ND1:MT-ND3:5ldw:H:A:V144G:N10K:1.35738:1.9026897:-0.557247937;MT-ND1:MT-ND3:5ldw:H:A:V144G:N10D:3.46538:1.9026897:1.56138194;MT-ND1:MT-ND3:5ldw:H:A:V144G:N10H:0.55671:1.9026897:-1.41110837;MT-ND1:MT-ND3:5ldw:H:A:V144G:N10T:0.95542:1.9026897:-0.944197059;MT-ND1:MT-ND3:5ldw:H:A:V144G:N10S:2.67871:1.9026897:0.722851157;MT-ND1:MT-ND3:5ldw:H:A:V144G:N10Y:0.10878:1.9026897:-1.868029;MT-ND1:MT-ND3:5ldx:H:A:V144G:N10I:0.03869:1.83056986:-1.75487101;MT-ND1:MT-ND3:5ldx:H:A:V144G:N10K:0.9242:1.83056986:-0.983650565;MT-ND1:MT-ND3:5ldx:H:A:V144G:N10D:3.58236:1.83056986:1.77093887;MT-ND1:MT-ND3:5ldx:H:A:V144G:N10H:0.649:1.83056986:-1.23474002;MT-ND1:MT-ND3:5ldx:H:A:V144G:N10T:1.0825:1.83056986:-0.727460086;MT-ND1:MT-ND3:5ldx:H:A:V144G:N10S:2.69215:1.83056986:0.834559619;MT-ND1:MT-ND3:5ldx:H:A:V144G:N10Y:-0.36689:1.83056986:-1.7146492 MT-ND1:MT-ND3:5lc5:H:A:V144D:N10D:4.02764:2.00195003:1.9348892;MT-ND1:MT-ND3:5lc5:H:A:V144D:N10I:1.10277:2.00195003:-0.200120538;MT-ND1:MT-ND3:5lc5:H:A:V144D:N10K:2.64491:2.00195003:0.559670269;MT-ND1:MT-ND3:5lc5:H:A:V144D:N10T:1.23572:2.00195003:-0.845690131;MT-ND1:MT-ND3:5lc5:H:A:V144D:N10H:1.75997:2.00195003:-0.468639374;MT-ND1:MT-ND3:5lc5:H:A:V144D:N10S:3.15835:2.00195003:1.00994909;MT-ND1:MT-ND3:5lc5:H:A:V144D:N10Y:1.19635:2.00195003:-1.04049873;MT-ND1:MT-ND3:5ldw:H:A:V144D:N10D:4.85764:3.30468059:1.56138194;MT-ND1:MT-ND3:5ldw:H:A:V144D:N10I:1.21247:3.30468059:-1.98465884;MT-ND1:MT-ND3:5ldw:H:A:V144D:N10K:2.53392:3.30468059:-0.557247937;MT-ND1:MT-ND3:5ldw:H:A:V144D:N10T:2.33287:3.30468059:-0.944197059;MT-ND1:MT-ND3:5ldw:H:A:V144D:N10H:1.91989:3.30468059:-1.41110837;MT-ND1:MT-ND3:5ldw:H:A:V144D:N10S:4.00442:3.30468059:0.722851157;MT-ND1:MT-ND3:5ldw:H:A:V144D:N10Y:1.27381:3.30468059:-1.868029;MT-ND1:MT-ND3:5ldx:H:A:V144D:N10D:4.86838:3.1031003:1.77093887;MT-ND1:MT-ND3:5ldx:H:A:V144D:N10I:1.28499:3.1031003:-1.75487101;MT-ND1:MT-ND3:5ldx:H:A:V144D:N10K:2.16171:3.1031003:-0.983650565;MT-ND1:MT-ND3:5ldx:H:A:V144D:N10T:2.38511:3.1031003:-0.727460086;MT-ND1:MT-ND3:5ldx:H:A:V144D:N10H:1.80722:3.1031003:-1.23474002;MT-ND1:MT-ND3:5ldx:H:A:V144D:N10S:4.00514:3.1031003:0.834559619;MT-ND1:MT-ND3:5ldx:H:A:V144D:N10Y:1.66248:3.1031003:-1.7146492
For more info, please check the output legend.
For more info, please check the output legend.
For more info, please check the output legend.
For more info, please check the output legend.
For more info, please check the output legend.