14487 (T > C)

General info

Chr
chrM
Start
14487
End
14487
Ref
T
Alt
C
Mitimpact ID
MI.23799
Gene symbol
MT-ND6
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
187
AA pos
63
AA ref
M
AA alt
V
Codon substitution
Atg/Gtg
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Conservation

PhyloP 100v
8.21 Conservation Score
PhastCons 100v
1 Conservation Score

Pathogenicity predictors

PolyPhen2
Probably damaging Score and details of the predictor
SIFT
Neutral Score and details of the predictor
FatHmm
Deleterious Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Deleterious Score and details of the predictor
Mutation Assessor
High impact Score and details of the predictor
EFIN SP
Damaging Score and details of the predictor
EFIN HD
Damaging Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Disease Score and details of the predictor
PhD-SNP
Disease Score and details of the predictor
MutationTaster
.
CADD
Neutral 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
Deleterious Score and details of the meta-predictor

Cancer-specific predictors

PolyPhen2 transf
Low impact Score and details of the cancer-specific predictor
SIFT transf
Medium impact Score and details of the cancer-specific predictor
MutationAssessor transf
High 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
Pathogenic
ClinVar March2020 ClnDBN
Leigh syndrome;

leigh syndrome due to mitochondrial complex i deficiency;

striatal necrosis, bilateral, with dystonia
ClinVar March2020 ClnAllele ID
24733
ClinVar March2020 ClnDSDB
Medgen:c0023264, omim:256000, orphanet:orpha506, snomed ct:29570005;

medgen:c1838951;

medgen:c1838954
MITOMAP Allele
MITOMAP Phenotype
Dystonia / leigh disease / ataxia / ptosis / epilepsy
MITOMAP Homoplasmy
-
MITOMAP Heteroplasmy
+
MITOMAP Status
Cfrm
MITOMAP NRef
25
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
.

14487 (T > A)

General info

Chr
chrM
Start
14487
End
14487
Ref
T
Alt
A
Mitimpact ID
MI.23797
Gene symbol
MT-ND6
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
187
AA pos
63
AA ref
M
AA alt
L
Codon substitution
Atg/Ttg
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Powered by MitoWheel

Conservation

PhyloP 100v
8.21 Conservation Score
PhastCons 100v
1 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
High impact Score and details of the predictor
EFIN SP
Damaging Score and details of the predictor
EFIN HD
Damaging Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Disease Score and details of the predictor
MutationTaster
.
CADD
Neutral Score and details of the predictor
SNAP
Disease 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
Pathogenic 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
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
Deleterious Score and details of the meta-predictor

Cancer-specific predictors

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

14487 (T > G)

General info

Chr
chrM
Start
14487
End
14487
Ref
T
Alt
G
Mitimpact ID
MI.23798
Gene symbol
MT-ND6
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
187
AA pos
63
AA ref
M
AA alt
L
Codon substitution
Atg/Ctg
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
8.21 Conservation Score
PhastCons 100v
1 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
High impact Score and details of the predictor
EFIN SP
Damaging Score and details of the predictor
EFIN HD
Damaging Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Disease Score and details of the predictor
MutationTaster
.
CADD
Neutral Score and details of the predictor
SNAP
Disease 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
Pathogenic 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
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
Deleterious Score and details of the meta-predictor

Cancer-specific predictors

PolyPhen2 transf
Low impact Score and details of the cancer-specific predictor
SIFT transf
Medium impact Score and details of the cancer-specific predictor
MutationAssessor transf
High 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
.
~ 14487 (T/C) 14487 (T/A) 14487 (T/G)
~ 14487 (Atg/Gtg) 14487 (Atg/Ttg) 14487 (Atg/Ctg)
Chr chrM chrM chrM
Start 14487 14487 14487
End 14487 14487 14487
Ref T T T
Alt C A G
MitImpact id MI.23799 MI.23797 MI.23798
Gene symbol MT-ND6 MT-ND6 MT-ND6
Respiratory Chain complex I I I
Ensembl gene id ENSG00000198695 ENSG00000198695 ENSG00000198695
Ensembl protein id ENSP00000354665 ENSP00000354665 ENSP00000354665
Ensembl transcript id ENST00000361681 ENST00000361681 ENST00000361681
Uniprot name NU6M_HUMAN NU6M_HUMAN NU6M_HUMAN
Uniprot id P03923 P03923 P03923
Ncbi gene id 4541 4541 4541
Ncbi protein id YP_003024037.1 YP_003024037.1 YP_003024037.1
Gene position 187 187 187
AA position 63 63 63
AA ref M M M
AA alt V L L
Codon substitution Atg/Gtg Atg/Ttg Atg/Ctg
PhyloP 100V 8.21 8.21 8.21
PhastCons 100V 1 1 1
PolyPhen2 probably_damaging probably_damaging probably_damaging
PolyPhen2 score 0.99 0.98 0.98
SIFT neutral neutral neutral
SIFT score 0.42 0.57 0.57
FatHmm deleterious neutral neutral
FatHmm score -3.62 -2.47 -2.47
FatHmmW neutral neutral neutral
FatHmmW score 2.39 2.36 2.36
PROVEAN deleterious deleterious deleterious
PROVEAN score -3.98 -2.99 -2.99
MutationAssessor high impact high impact high impact
MutationAssessor score 4.01 4.01 4.01
EFIN SP damaging damaging damaging
EFIN SP score 0.28 0.44 0.44
EFIN HD damaging damaging damaging
EFIN HD score 0.04 0.06 0.06
CADD neutral neutral neutral
CADD score 0.66 1.79 1.68
CADD phred 8.55 14.94 14.29
VEST pvalue 0.25 0.19 0.19
VEST FDR 0.45 0.45 0.45
PANTHER disease neutral neutral
PANTHER score 0.52 0.34 0.34
PhD-SNP disease disease disease
PhD-SNP score 0.96 0.95 0.95
SNAP disease disease disease
SNAP score 0.79 0.75 0.75
Meta-SNP disease disease disease
Meta-SNP score 0.88 0.87 0.87
Meta-SNP RI 8 7 7
CAROL deleterious neutral neutral
CAROL score 0.99 0.98 0.98
Condel neutral neutral neutral
Condel score 0.22 0.3 0.3
COVEC WMV deleterious deleterious deleterious
COVEC WMV score 2 2 2
MtoolBox deleterious deleterious deleterious
MtoolBox DS 0.87 0.84 0.84
PolyPhen2 transf low impact low impact low impact
PolyPhen2 transf score -2.63 -2.35 -2.35
SIFT_transf medium impact medium impact medium impact
SIFT transf score 0.13 0.27 0.27
MutationAssessor transf high impact high impact high impact
MutationAssessor transf score 2.22 2.22 2.22
CHASM pvalue 0.48 0.45 0.45
CHASM FDR 0.8 0.8 0.8
APOGEE Pathogenic Pathogenic Pathogenic
APOGEE score 0.9 0.73 0.66
SNPDryad score 0.93 0.97 0.97
MutationTaster . . .
MutationTaster score . . .
DEOGEN2 score 0.85 0.67 0.67
Mitoclass.1 damaging neutral neutral
dbSNP 153 id rs199476109 . .
ClinVar March2020 ClinSig Pathogenic . .
ClinVar March2020 ClnDBN Leigh_syndrome|Leigh_syndrome_due_to_mitochondrial_complex_I_deficiency|Striatal_necrosis,_bilateral,_with_dystonia . .
ClinVar March2020 ClnAllele id 24733 . .
ClinVar March2020 ClnDSDB MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C1838951|MedGen:C1838954 . .
COSMIC 90 . . .
CPD Frequency . . .
MITOMAP Allele T14487C . .
MITOMAP Phenotype Dystonia / Leigh Disease / ataxia / ptosis / epilepsy . .
MITOMAP Homoplasmy - . .
MITOMAP Heteroplasmy + . .
MITOMAP Status Cfrm . .
MITOMAP NRef 25 . .
EVmutation MT-ND6_63M|69Y:0.102565 MT-ND6_63M|69Y:0.102565 MT-ND6_63M|69Y:0.102565
Site A InterP . . .
Site B InterP . . .
Covariation Score InterP . . .
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 . . .
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