General info

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

Conservation

PhyloP 100v
0.06
PhastCons 100v
0.94

Pathogenicity predictors

PolyPhen2
Benign
PolyPhen2 score
0.05
SIFT
Neutral
SIFT score
0.09
FatHmm
Neutral
FatHmm score
-2.9
FatHMMW
Neutral
FatHMMW score
1.94
PROVEAN
Deleterious
PROVEAN score
-2.98
Mutation Assessor
High impact
Mutation Assessor score
3.99
EFIN SP
Neutral
EFIN SP score
0.72
EFIN HD
Neutral
EFIN HD score
0.6
VEST p-value
0.38
VEST FDR
0.5
PANTHER
Disease
PANTHER score
0.5
PhD-SNP
Disease
PhD-SNP score
0.89
MutationTaster
Disease causing
MutationTaster score
0.97
CADD
Deleterious
CADD score
2.35
CADD phred
18.51
SNAP
Disease
SNAP score
0.59
MitoClass 1
Damaging
SNPDryad score
0.02

Pathogenicity meta-predictors

CAROL
Neutral
CAROL score
0.9
Condel
Deleterious
Condel score
0.52
COVEC WMV
Neutral
COVEC WMV score
-2
Meta SNP
Disease
Meta SNP score
0.57
Meta SNP RI
1
MtoolBox
Neutral
MtoolBox DS
0.31
APOGEE consensus
N
APOGEE mean p
0.42
DEOGEN score
0.18

Cancer-specific predictors

PolyPhen2 transf
Medium impact
PolyPhen2 transf score
0.37
SIFT transf
Medium impact
SIFT transf score
-0.35
MutationAssessor transf
High impact
MutationAssessor transf score
2.21
CHASM p-value
0.7
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
G10680a
Mitomap Phenotype
Lhon / synergistic combo 10680a + 12033g + 14258a
Mitomap Homoplasmy
+
Mitomap Heteroplasmy
-
Mitomap Status
Reported / possibly synergistic
Mitomap NRef
3
COSMIC 87
.
Classification Clinvar
.
Classification Mitomap
N
Classification global
N
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
.

10680 (G > T)

General info

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

Conservation

PhyloP 100v
0.06
PhastCons 100v
0.94

Pathogenicity predictors

PolyPhen2
Possibly damaging
PolyPhen2 score
0.64
SIFT
Neutral
SIFT score
0.25
FatHmm
Neutral
FatHmm score
-2.15
FatHMMW
Neutral
FatHMMW score
1.76
PROVEAN
Neutral
PROVEAN score
-2.47
Mutation Assessor
Medium impact
Mutation Assessor score
2.92
EFIN SP
Neutral
EFIN SP score
0.65
EFIN HD
Neutral
EFIN HD score
0.39
VEST p-value
0.48
VEST FDR
0.55
PANTHER
Neutral
PANTHER score
0.43
PhD-SNP
Disease
PhD-SNP score
0.94
MutationTaster
Disease causing
MutationTaster score
0.94
CADD
Deleterious
CADD score
2.17
CADD phred
17.33
SNAP
Disease
SNAP score
0.58
MitoClass 1
Neutral
SNPDryad score
0.63

Pathogenicity meta-predictors

CAROL
Neutral
CAROL score
0.77
Condel
Neutral
Condel score
0.31
COVEC WMV
.
COVEC WMV score
0
Meta SNP
Disease
Meta SNP score
0.77
Meta SNP RI
5
MtoolBox
Deleterious
MtoolBox DS
0.68
APOGEE consensus
N
APOGEE mean p
0.42
DEOGEN score
0.18

Cancer-specific predictors

PolyPhen2 transf
Low impact
PolyPhen2 transf score
-1.03
SIFT transf
Medium impact
SIFT transf score
-0.06
MutationAssessor transf
Medium impact
MutationAssessor transf score
1.31
CHASM p-value
0.64
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
.

10680 (G > C)

General info

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

Conservation

PhyloP 100v
0.06
PhastCons 100v
0.94

Pathogenicity predictors

PolyPhen2
Probably damaging
PolyPhen2 score
0.95
SIFT
Neutral
SIFT score
0.07
FatHmm
Deleterious
FatHmm score
-4.58
FatHMMW
Neutral
FatHMMW score
1.67
PROVEAN
Deleterious
PROVEAN score
-4.46
Mutation Assessor
High impact
Mutation Assessor score
4.54
EFIN SP
Damaging
EFIN SP score
0.56
EFIN HD
Neutral
EFIN HD score
0.29
VEST p-value
0.23
VEST FDR
0.45
PANTHER
Disease
PANTHER score
0.71
PhD-SNP
Disease
PhD-SNP score
0.96
MutationTaster
Disease causing
MutationTaster score
0.99
CADD
Deleterious
CADD score
3.83
CADD phred
23.4
SNAP
Disease
SNAP score
0.75
MitoClass 1
Damaging
SNPDryad score
0.86

Pathogenicity meta-predictors

CAROL
Deleterious
CAROL score
0.99
Condel
Neutral
Condel score
0.06
COVEC WMV
Deleterious
COVEC WMV score
2
Meta SNP
Disease
Meta SNP score
0.89
Meta SNP RI
8
MtoolBox
Deleterious
MtoolBox DS
0.86
APOGEE consensus
P
APOGEE mean p
0.56
DEOGEN score
0.4

Cancer-specific predictors

PolyPhen2 transf
Low impact
PolyPhen2 transf score
-1.97
SIFT transf
Medium impact
SIFT transf score
-0.41
MutationAssessor transf
High impact
MutationAssessor transf score
2.67
CHASM p-value
0.58
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
.

10681 (C > T)

General info

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

Conservation

PhyloP 100v
5.13
PhastCons 100v
1

Pathogenicity predictors

PolyPhen2
Possibly damaging
PolyPhen2 score
0.75
SIFT
Neutral
SIFT score
0.27
FatHmm
Neutral
FatHmm score
-1.64
FatHMMW
Neutral
FatHMMW score
1.77
PROVEAN
Deleterious
PROVEAN score
-3.53
Mutation Assessor
High impact
Mutation Assessor score
4.2
EFIN SP
Neutral
EFIN SP score
0.65
EFIN HD
Neutral
EFIN HD score
0.29
VEST p-value
0.44
VEST FDR
0.55
PANTHER
Disease
PANTHER score
0.61
PhD-SNP
Disease
PhD-SNP score
0.92
MutationTaster
Disease causing
MutationTaster score
1
CADD
Deleterious
CADD score
4.12
CADD phred
23.8
SNAP
Disease
SNAP score
0.63
MitoClass 1
Damaging
SNPDryad score
0.58

Pathogenicity meta-predictors

CAROL
Neutral
CAROL score
0.82
Condel
Neutral
Condel score
0.26
COVEC WMV
Deleterious
COVEC WMV score
1
Meta SNP
Disease
Meta SNP score
0.75
Meta SNP RI
5
MtoolBox
Deleterious
MtoolBox DS
0.7
APOGEE consensus
P
APOGEE mean p
0.69
DEOGEN score
0.18

Cancer-specific predictors

PolyPhen2 transf
Low impact
PolyPhen2 transf score
-1.24
SIFT transf
Medium impact
SIFT transf score
-0.03
MutationAssessor transf
High impact
MutationAssessor transf score
2.38
CHASM p-value
0.69
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
.
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
.

10681 (C > G)

General info

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

Conservation

PhyloP 100v
5.13
PhastCons 100v
1

Pathogenicity predictors

PolyPhen2
Benign
PolyPhen2 score
0.08
SIFT
Neutral
SIFT score
0.51
FatHmm
Neutral
FatHmm score
-2.09
FatHMMW
Neutral
FatHMMW score
1.72
PROVEAN
Deleterious
PROVEAN score
-3.44
Mutation Assessor
Low impact
Mutation Assessor score
1.84
EFIN SP
Neutral
EFIN SP score
0.67
EFIN HD
Neutral
EFIN HD score
0.46
VEST p-value
0.4
VEST FDR
0.5
PANTHER
Neutral
PANTHER score
0.21
PhD-SNP
Disease
PhD-SNP score
0.92
MutationTaster
Disease causing
MutationTaster score
1
CADD
Deleterious
CADD score
2.04
CADD phred
16.46
SNAP
Neutral
SNAP score
0.44
MitoClass 1
Neutral
SNPDryad score
0.63

Pathogenicity meta-predictors

CAROL
Neutral
CAROL score
0.42
Condel
Deleterious
Condel score
0.72
COVEC WMV
Neutral
COVEC WMV score
-6
Meta SNP
Disease
Meta SNP score
0.73
Meta SNP RI
5
MtoolBox
Neutral
MtoolBox DS
0.23
APOGEE consensus
P
APOGEE mean p
0.55
DEOGEN score
0.17

Cancer-specific predictors

PolyPhen2 transf
Medium impact
PolyPhen2 transf score
0.17
SIFT transf
Medium impact
SIFT transf score
0.22
MutationAssessor transf
Medium impact
MutationAssessor transf score
0.4
CHASM p-value
0.73
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
.
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
.

10681 (C > A)

General info

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

Conservation

PhyloP 100v
5.13
PhastCons 100v
1

Pathogenicity predictors

PolyPhen2
Possibly damaging
PolyPhen2 score
0.87
SIFT
Neutral
SIFT score
0.26
FatHmm
Deleterious
FatHmm score
-3.8
FatHMMW
Neutral
FatHMMW score
1.7
PROVEAN
Deleterious
PROVEAN score
-4.46
Mutation Assessor
High impact
Mutation Assessor score
4.54
EFIN SP
Neutral
EFIN SP score
0.61
EFIN HD
Neutral
EFIN HD score
0.36
VEST p-value
0.17
VEST FDR
0.45
PANTHER
Disease
PANTHER score
0.6
PhD-SNP
Disease
PhD-SNP score
0.95
MutationTaster
Disease causing
MutationTaster score
1
CADD
Deleterious
CADD score
4.4
CADD phred
24.1
SNAP
Disease
SNAP score
0.71
MitoClass 1
Damaging
SNPDryad score
0.84

Pathogenicity meta-predictors

CAROL
Neutral
CAROL score
0.9
Condel
Neutral
Condel score
0.2
COVEC WMV
Deleterious
COVEC WMV score
1
Meta SNP
Disease
Meta SNP score
0.86
Meta SNP RI
7
MtoolBox
Deleterious
MtoolBox DS
0.82
APOGEE consensus
P
APOGEE mean p
0.7
DEOGEN score
0.4

Cancer-specific predictors

PolyPhen2 transf
Low impact
PolyPhen2 transf score
-1.56
SIFT transf
Medium impact
SIFT transf score
-0.04
MutationAssessor transf
High impact
MutationAssessor transf score
2.67
CHASM p-value
0.51
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
.
~ 10680 (G/A) 10680 (G/T) 10680 (G/C) 10681 (C/T) 10681 (C/G) 10681 (C/A)
~ 10680 (Gca/Aca) 10680 (Gca/Tca) 10680 (Gca/Cca) 10681 (gCa/gTa) 10681 (gCa/gGa) 10681 (gCa/gAa)
Chr chrM chrM chrM chrM chrM chrM
Start 10680 10680 10680 10681 10681 10681
End 10680 10680 10680 10681 10681 10681
Ref G G G C C C
Alt A T C T G A
MitImpact id MI.16139 MI.16140 MI.16141 MI.16142 MI.16143 MI.16144
Gene symbol MT-ND4L MT-ND4L MT-ND4L MT-ND4L MT-ND4L MT-ND4L
OXPHOS complex I I I I I I
Ensembl gene id ENSG00000212907 ENSG00000212907 ENSG00000212907 ENSG00000212907 ENSG00000212907 ENSG00000212907
Ensembl protein id ENSP00000354728 ENSP00000354728 ENSP00000354728 ENSP00000354728 ENSP00000354728 ENSP00000354728
Ensembl transcript id ENST00000361335 ENST00000361335 ENST00000361335 ENST00000361335 ENST00000361335 ENST00000361335
Uniprot name NU4LM_HUMAN NU4LM_HUMAN NU4LM_HUMAN NU4LM_HUMAN NU4LM_HUMAN NU4LM_HUMAN
Uniprot id P03901 P03901 P03901 P03901 P03901 P03901
Ncbi gene id 4539 4539 4539 4539 4539 4539
Ncbi protein id YP_003024034.1 YP_003024034.1 YP_003024034.1 YP_003024034.1 YP_003024034.1 YP_003024034.1
Gene position 211 211 211 212 212 212
AA position 71 71 71 71 71 71
AA ref A A A A A A
AA alt T S P V G E
Codon substitution Gca/Aca Gca/Tca Gca/Cca gCa/gTa gCa/gGa gCa/gAa
PhyloP 100V 0.06 0.06 0.06 5.13 5.13 5.13
PhastCons 100V 0.94 0.94 0.94 1 1 1
PolyPhen2 benign possibly_damaging probably_damaging possibly_damaging benign possibly_damaging
PolyPhen2 score 0.05 0.64 0.95 0.75 0.08 0.87
SIFT neutral neutral neutral neutral neutral neutral
SIFT score 0.09 0.25 0.07 0.27 0.51 0.26
FatHmm neutral neutral deleterious neutral neutral deleterious
FatHmm score -2.9 -2.15 -4.58 -1.64 -2.09 -3.8
FatHmmW neutral neutral neutral neutral neutral neutral
FatHmmW score 1.94 1.76 1.67 1.77 1.72 1.7
PROVEAN deleterious neutral deleterious deleterious deleterious deleterious
PROVEAN score -2.98 -2.47 -4.46 -3.53 -3.44 -4.46
MutationAssessor high impact medium impact high impact high impact low impact high impact
MutationAssessor score 3.99 2.92 4.54 4.2 1.84 4.54
EFIN SP neutral neutral damaging neutral neutral neutral
EFIN SP score 0.72 0.65 0.56 0.65 0.67 0.61
EFIN HD neutral neutral neutral neutral neutral neutral
EFIN HD score 0.6 0.39 0.29 0.29 0.46 0.36
CADD deleterious deleterious deleterious deleterious deleterious deleterious
CADD score 2.35 2.17 3.83 4.12 2.04 4.4
CADD phred 18.51 17.33 23.4 23.8 16.46 24.1
VEST pvalue 0.38 0.48 0.23 0.44 0.4 0.17
VEST FDR 0.5 0.55 0.45 0.55 0.5 0.45
PANTHER disease neutral disease disease neutral disease
PANTHER score 0.5 0.43 0.71 0.61 0.21 0.6
PhD-SNP disease disease disease disease disease disease
PhD-SNP score 0.89 0.94 0.96 0.92 0.92 0.95
SNAP disease disease disease disease neutral disease
SNAP score 0.59 0.58 0.75 0.63 0.44 0.71
Meta-SNP disease disease disease disease disease disease
Meta-SNP score 0.57 0.77 0.89 0.75 0.73 0.86
Meta-SNP RI 1 5 8 5 5 7
CAROL neutral neutral deleterious neutral neutral neutral
CAROL score 0.9 0.77 0.99 0.82 0.42 0.9
Condel deleterious neutral neutral neutral deleterious neutral
Condel score 0.52 0.31 0.06 0.26 0.72 0.2
COVEC WMV neutral . deleterious deleterious neutral deleterious
COVEC WMV score -2 0 2 1 -6 1
MtoolBox neutral deleterious deleterious deleterious neutral deleterious
MtoolBox DS 0.31 0.68 0.86 0.7 0.23 0.82
PolyPhen2 transf medium impact low impact low impact low impact medium impact low impact
PolyPhen2 transf score 0.37 -1.03 -1.97 -1.24 0.17 -1.56
SIFT_transf medium impact medium impact medium impact medium impact medium impact medium impact
SIFT transf score -0.35 -0.06 -0.41 -0.03 0.22 -0.04
MutationAssessor transf high impact medium impact high impact high impact medium impact high impact
MutationAssessor transf score 2.21 1.31 2.67 2.38 0.4 2.67
CHASM pvalue 0.7 0.64 0.58 0.69 0.73 0.51
CHASM FDR 0.85 0.8 0.8 0.85 0.85 0.8
APOGEE bootstrap consensus N N P P P P
APOGEE bootstrap mean probability (mp) 0.42 0.42 0.56 0.69 0.55 0.7
SNPDryad score 0.02 0.63 0.86 0.58 0.63 0.84
MutationTaster disease_causing disease_causing disease_causing disease_causing disease_causing disease_causing
MutationTaster score 0.97 0.94 0.99 1 1 1
DEOGEN score 0.18 0.18 0.4 0.18 0.17 0.4
Mitoclass.1 damaging neutral damaging damaging neutral damaging
dbSNP 151 id . . . . . .
ClinVar June2018 ClinSig . . . . . .
ClinVar June2018 ClnDBN . . . . . .
ClinVar June2018 ClnAllele id . . . . . .
ClinVar June2018 ClnDSDB . . . . . .
COSMIC 87 . . . . . .
CPD candidate . . . . . .
CPD frequency . . . . . .
Mitomap Allele G10680A . . . . .
Mitomap Phenotype LHON / synergistic combo 10680A + 12033G + 14258A . . . . .
Mitomap Homoplasmy + . . . . .
Mitomap Heteroplasmy - . . . . .
Mitomap Status Reported / possibly synergistic . . . . .
Mitomap NRef 3 . . . . .
Classification Clinvar . . . . . .
Classification Mitomap N . . . . .
Classification Global N . . . . .
Classification Global N . . . . .
EV Mutation MT-ND4L_71A|72A:0.268189;78L:0.182623;89Y:0.106321;95L:0.099561;73V:0.086635;74G:0.080875;84T:0.07685;79V:0.07611;93L:0.069507 MT-ND4L_71A|72A:0.268189;78L:0.182623;89Y:0.106321;95L:0.099561;73V:0.086635;74G:0.080875;84T:0.07685;79V:0.07611;93L:0.069507 MT-ND4L_71A|72A:0.268189;78L:0.182623;89Y:0.106321;95L:0.099561;73V:0.086635;74G:0.080875;84T:0.07685;79V:0.07611;93L:0.069507 MT-ND4L_71A|72A:0.268189;78L:0.182623;89Y:0.106321;95L:0.099561;73V:0.086635;74G:0.080875;84T:0.07685;79V:0.07611;93L:0.069507 MT-ND4L_71A|72A:0.268189;78L:0.182623;89Y:0.106321;95L:0.099561;73V:0.086635;74G:0.080875;84T:0.07685;79V:0.07611;93L:0.069507 MT-ND4L_71A|72A:0.268189;78L:0.182623;89Y:0.106321;95L:0.099561;73V:0.086635;74G:0.080875;84T:0.07685;79V:0.07611;93L:0.069507
Site A InterP ND4L_71 ND4L_71 ND4L_71 ND4L_71 ND4L_71 ND4L_71
Site B InterP ND5_359;ND6_123;ND6_55;ND6_65;ND6_7;ND5_480;ND5_374;ND5_71;ND5_463;ND5_434;ND5_286 ND5_359;ND6_123;ND6_55;ND6_65;ND6_7;ND5_480;ND5_374;ND5_71;ND5_463;ND5_434;ND5_286 ND5_359;ND6_123;ND6_55;ND6_65;ND6_7;ND5_480;ND5_374;ND5_71;ND5_463;ND5_434;ND5_286 ND5_359;ND6_123;ND6_55;ND6_65;ND6_7;ND5_480;ND5_374;ND5_71;ND5_463;ND5_434;ND5_286 ND5_359;ND6_123;ND6_55;ND6_65;ND6_7;ND5_480;ND5_374;ND5_71;ND5_463;ND5_434;ND5_286 ND5_359;ND6_123;ND6_55;ND6_65;ND6_7;ND5_480;ND5_374;ND5_71;ND5_463;ND5_434;ND5_286
Covariation Score InterP mfDCA:40.0557;mfDCA:24.3392;mfDCA:23.5846;mfDCA:20.2797;mfDCA:18.0978;cMI:57.537868;cMI:56.374172;cMI:51.734581;cMI:50.998268;cMI:50.408295;cMI:48.163033 mfDCA:40.0557;mfDCA:24.3392;mfDCA:23.5846;mfDCA:20.2797;mfDCA:18.0978;cMI:57.537868;cMI:56.374172;cMI:51.734581;cMI:50.998268;cMI:50.408295;cMI:48.163033 mfDCA:40.0557;mfDCA:24.3392;mfDCA:23.5846;mfDCA:20.2797;mfDCA:18.0978;cMI:57.537868;cMI:56.374172;cMI:51.734581;cMI:50.998268;cMI:50.408295;cMI:48.163033 mfDCA:40.0557;mfDCA:24.3392;mfDCA:23.5846;mfDCA:20.2797;mfDCA:18.0978;cMI:57.537868;cMI:56.374172;cMI:51.734581;cMI:50.998268;cMI:50.408295;cMI:48.163033 mfDCA:40.0557;mfDCA:24.3392;mfDCA:23.5846;mfDCA:20.2797;mfDCA:18.0978;cMI:57.537868;cMI:56.374172;cMI:51.734581;cMI:50.998268;cMI:50.408295;cMI:48.163033 mfDCA:40.0557;mfDCA:24.3392;mfDCA:23.5846;mfDCA:20.2797;mfDCA:18.0978;cMI:57.537868;cMI:56.374172;cMI:51.734581;cMI:50.998268;cMI:50.408295;cMI:48.163033
Site A IntraP . . . . . .
Site B IntraP . . . . . .
Covariation Score IntraP . . . . . .
CPD AA ref . . . . . .
CPD AA alt . . . . . .
CPD aln pos . . . . . .
CPD Species name . . . . . .
CPD RefSeq Protein ID . . . . . .
CPD Ncbi Taxon ID . . . . . .
DDG intra . . . . . .
DDG intra interface . . . . . .
DDG inter MT-ND4L:MT-ND6:5lc5:K:J:A71T:T71K:0.0875:-0.234632105:0.349819183;MT-ND4L:MT-ND6:5lc5:K:J:A71T:T71S:0.2707:-0.234632105:0.545650125;MT-ND4L:MT-ND6:5lc5:K:J:A71T:T71M:0.03951:-0.234632105:0.272438824;MT-ND4L:MT-ND6:5lc5:K:J:A71T:T71P:0.23344:-0.234632105:0.521499276;MT-ND4L:MT-ND6:5lc5:K:J:A71T:T71A:0.22846:-0.234632105:0.462280273;MT-ND4L:MT-ND6:5ldw:K:J:A71T:T71K:0.06819:-0.196310431:0.330052197;MT-ND4L:MT-ND6:5ldw:K:J:A71T:T71S:0.19323:-0.196310431:0.506391168;MT-ND4L:MT-ND6:5ldw:K:J:A71T:T71M:0.03124:-0.196310431:0.330003351;MT-ND4L:MT-ND6:5ldw:K:J:A71T:T71P:0.29108:-0.196310431:0.499993145;MT-ND4L:MT-ND6:5ldw:K:J:A71T:T71A:0.15385:-0.196310431:0.443702698;MT-ND4L:MT-ND6:5ldx:K:J:A71T:T71K:-0.18584:-0.633990109:0.38250047;MT-ND4L:MT-ND6:5ldx:K:J:A71T:T71S:-0.07485:-0.633990109:0.496649563;MT-ND4L:MT-ND6:5ldx:K:J:A71T:T71M:-0.11459:-0.633990109:0.38127023;MT-ND4L:MT-ND6:5ldx:K:J:A71T:T71P:-0.24866:-0.633990109:0.374649823;MT-ND4L:MT-ND6:5ldx:K:J:A71T:T71A:-0.21315:-0.633990109:0.337310016 MT-ND4L:MT-ND6:5lc5:K:J:A71S:T71K:0.05905:0.0984386429:0.349819183;MT-ND4L:MT-ND6:5lc5:K:J:A71S:T71S:0.60418:0.0984386429:0.545650125;MT-ND4L:MT-ND6:5lc5:K:J:A71S:T71M:0.33742:0.0984386429:0.272438824;MT-ND4L:MT-ND6:5lc5:K:J:A71S:T71A:0.55369:0.0984386429:0.462280273;MT-ND4L:MT-ND6:5lc5:K:J:A71S:T71P:0.71729:0.0984386429:0.521499276;MT-ND4L:MT-ND6:5ldw:K:J:A71S:T71K:0.41987:0.0573913567:0.330052197;MT-ND4L:MT-ND6:5ldw:K:J:A71S:T71S:0.6229:0.0573913567:0.506391168;MT-ND4L:MT-ND6:5ldw:K:J:A71S:T71M:0.44635:0.0573913567:0.330003351;MT-ND4L:MT-ND6:5ldw:K:J:A71S:T71A:0.52161:0.0573913567:0.443702698;MT-ND4L:MT-ND6:5ldw:K:J:A71S:T71P:0.57588:0.0573913567:0.499993145;MT-ND4L:MT-ND6:5ldx:K:J:A71S:T71K:-0.23114:-0.592829108:0.38250047;MT-ND4L:MT-ND6:5ldx:K:J:A71S:T71S:-0.13127:-0.592829108:0.496649563;MT-ND4L:MT-ND6:5ldx:K:J:A71S:T71M:-0.24956:-0.592829108:0.38127023;MT-ND4L:MT-ND6:5ldx:K:J:A71S:T71A:-0.28049:-0.592829108:0.337310016;MT-ND4L:MT-ND6:5ldx:K:J:A71S:T71P:-0.23925:-0.592829108:0.374649823 MT-ND4L:MT-ND6:5lc5:K:J:A71P:T71M:0.44657:0.18503876:0.272438824;MT-ND4L:MT-ND6:5lc5:K:J:A71P:T71P:0.73229:0.18503876:0.521499276;MT-ND4L:MT-ND6:5lc5:K:J:A71P:T71S:0.67734:0.18503876:0.545650125;MT-ND4L:MT-ND6:5lc5:K:J:A71P:T71A:0.64721:0.18503876:0.462280273;MT-ND4L:MT-ND6:5lc5:K:J:A71P:T71K:0.53301:0.18503876:0.349819183;MT-ND4L:MT-ND6:5ldw:K:J:A71P:T71M:0.41534:0.117359921:0.330003351;MT-ND4L:MT-ND6:5ldw:K:J:A71P:T71P:0.6621:0.117359921:0.499993145;MT-ND4L:MT-ND6:5ldw:K:J:A71P:T71S:0.59015:0.117359921:0.506391168;MT-ND4L:MT-ND6:5ldw:K:J:A71P:T71A:0.51735:0.117359921:0.443702698;MT-ND4L:MT-ND6:5ldw:K:J:A71P:T71K:0.44585:0.117359921:0.330052197;MT-ND4L:MT-ND6:5ldx:K:J:A71P:T71M:0.63739:0.28040123:0.38127023;MT-ND4L:MT-ND6:5ldx:K:J:A71P:T71P:0.58679:0.28040123:0.374649823;MT-ND4L:MT-ND6:5ldx:K:J:A71P:T71S:0.75052:0.28040123:0.496649563;MT-ND4L:MT-ND6:5ldx:K:J:A71P:T71A:0.62069:0.28040123:0.337310016;MT-ND4L:MT-ND6:5ldx:K:J:A71P:T71K:0.64698:0.28040123:0.38250047 MT-ND4L:MT-ND6:5lc5:K:J:A71V:T71P:-0.31524:-0.85572207:0.521499276;MT-ND4L:MT-ND6:5lc5:K:J:A71V:T71K:-0.51587:-0.85572207:0.349819183;MT-ND4L:MT-ND6:5lc5:K:J:A71V:T71A:-0.39334:-0.85572207:0.462280273;MT-ND4L:MT-ND6:5lc5:K:J:A71V:T71M:-0.5836:-0.85572207:0.272438824;MT-ND4L:MT-ND6:5lc5:K:J:A71V:T71S:-0.27984:-0.85572207:0.545650125;MT-ND4L:MT-ND6:5ldw:K:J:A71V:T71P:-0.07942:-0.60515976:0.499993145;MT-ND4L:MT-ND6:5ldw:K:J:A71V:T71K:-0.3223:-0.60515976:0.330052197;MT-ND4L:MT-ND6:5ldw:K:J:A71V:T71A:-0.20614:-0.60515976:0.443702698;MT-ND4L:MT-ND6:5ldw:K:J:A71V:T71M:-0.33601:-0.60515976:0.330003351;MT-ND4L:MT-ND6:5ldw:K:J:A71V:T71S:-0.1642:-0.60515976:0.506391168;MT-ND4L:MT-ND6:5ldx:K:J:A71V:T71P:-0.80963:-1.18210983:0.374649823;MT-ND4L:MT-ND6:5ldx:K:J:A71V:T71K:-0.76177:-1.18210983:0.38250047;MT-ND4L:MT-ND6:5ldx:K:J:A71V:T71A:-0.84686:-1.18210983:0.337310016;MT-ND4L:MT-ND6:5ldx:K:J:A71V:T71M:-0.81334:-1.18210983:0.38127023;MT-ND4L:MT-ND6:5ldx:K:J:A71V:T71S:-0.68776:-1.18210983:0.496649563 MT-ND4L:MT-ND6:5lc5:K:J:A71G:T71M:0.57344:0.47907868:0.272438824;MT-ND4L:MT-ND6:5lc5:K:J:A71G:T71P:0.85927:0.47907868:0.521499276;MT-ND4L:MT-ND6:5lc5:K:J:A71G:T71K:0.72669:0.47907868:0.349819183;MT-ND4L:MT-ND6:5lc5:K:J:A71G:T71S:0.92094:0.47907868:0.545650125;MT-ND4L:MT-ND6:5lc5:K:J:A71G:T71A:0.80792:0.47907868:0.462280273;MT-ND4L:MT-ND6:5ldw:K:J:A71G:T71M:0.5724:0.278140247:0.330003351;MT-ND4L:MT-ND6:5ldw:K:J:A71G:T71P:0.7762:0.278140247:0.499993145;MT-ND4L:MT-ND6:5ldw:K:J:A71G:T71K:0.58838:0.278140247:0.330052197;MT-ND4L:MT-ND6:5ldw:K:J:A71G:T71S:0.74623:0.278140247:0.506391168;MT-ND4L:MT-ND6:5ldw:K:J:A71G:T71A:0.67433:0.278140247:0.443702698;MT-ND4L:MT-ND6:5ldx:K:J:A71G:T71M:0.99472:0.612800598:0.38127023;MT-ND4L:MT-ND6:5ldx:K:J:A71G:T71P:0.9902:0.612800598:0.374649823;MT-ND4L:MT-ND6:5ldx:K:J:A71G:T71K:1.02073:0.612800598:0.38250047;MT-ND4L:MT-ND6:5ldx:K:J:A71G:T71S:1.10989:0.612800598:0.496649563;MT-ND4L:MT-ND6:5ldx:K:J:A71G:T71A:0.95238:0.612800598:0.337310016 MT-ND4L:MT-ND6:5lc5:K:J:A71E:T71K:1.20206:1.10695875:0.349819183;MT-ND4L:MT-ND6:5lc5:K:J:A71E:T71P:1.48224:1.10695875:0.521499276;MT-ND4L:MT-ND6:5lc5:K:J:A71E:T71S:1.48238:1.10695875:0.545650125;MT-ND4L:MT-ND6:5lc5:K:J:A71E:T71M:1.21359:1.10695875:0.272438824;MT-ND4L:MT-ND6:5lc5:K:J:A71E:T71A:1.59815:1.10695875:0.462280273;MT-ND4L:MT-ND6:5ldw:K:J:A71E:T71K:0.92579:0.799778759:0.330052197;MT-ND4L:MT-ND6:5ldw:K:J:A71E:T71P:1.45455:0.799778759:0.499993145;MT-ND4L:MT-ND6:5ldw:K:J:A71E:T71S:1.26368:0.799778759:0.506391168;MT-ND4L:MT-ND6:5ldw:K:J:A71E:T71M:1.13745:0.799778759:0.330003351;MT-ND4L:MT-ND6:5ldw:K:J:A71E:T71A:1.18736:0.799778759:0.443702698;MT-ND4L:MT-ND6:5ldx:K:J:A71E:T71K:1.89528:1.14978099:0.38250047;MT-ND4L:MT-ND6:5ldx:K:J:A71E:T71P:1.84041:1.14978099:0.374649823;MT-ND4L:MT-ND6:5ldx:K:J:A71E:T71S:1.90631:1.14978099:0.496649563;MT-ND4L:MT-ND6:5ldx:K:J:A71E:T71M:1.85701:1.14978099:0.38127023;MT-ND4L:MT-ND6:5ldx:K:J:A71E:T71A:1.63535:1.14978099:0.337310016
For more info, please check the output legend.
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.