Logo MitImpact
Home Description Output legend Molecular Dynamics How to cite License

14482 (C > G)

General info

Chr
chrM
Start
14482
End
14482
Ref
C
Alt
G
Mitimpact ID
MI.23787
Gene symbol
MT-ND6
RC complex
I
Ensembl gene ID
ENSG00000198695
Ensembl protein ID
ENSP00000354665
Ensembl transcript ID
ENST00000361681
Uniprot name
NU6M_HUMAN
Uniprot ID
P03923
Ncbi gene ID
4541
Ncbi protein ID
YP_003024037.1
Gene position
192
AA pos
64
AA ref
M
AA alt
I
Codon substitution
atG/atC
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
-3.86528 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
SIFT4G
Damaging Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Neutral Score and details of the predictor
Mutation Assessor
Medium 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
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
Neutral Score and details of the predictor

Pathogenicity meta-predictors

APOGEE1
Pathogenic Score and details of the meta-predictor
APOGEE2
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 July2022 CLNSIG
.
ClinVar July2022 CLNDN
.
ClinVar July2022 Variation ID
.
ClinVar July2022 CLNDISDB
.
MITOMAP Allele
14482C>G
MITOMAP Disease Het/Hom
+/+
MITOMAP Disease Clinical info
Lhon
MITOMAP Disease Status
Cfrm [lp]
MITOMAP Disease GenBank Freq
0.000%(0.000%)
MITOMAP Disease GenBank Seqs
0 (0)
MITOMAP Disease GenBank Curated refs
8
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
Gnomad31 filter
.
Gnomad31 AC hom
.
Gnomad31 AC het
.
Gnomad31 AF hom
.
Gnomad31 AF het
.
Gnomad31 AN
.
HelixMTdb AC hom
.
HelixMTdb AF hom
.
HelixMTdb AC het
.
HelixMTdb AF het
.
HelixMTdb mean ARF
.
HelixMTdb max ARF
.
COSMIC 90
.
dbSNP 155
.

Residue interaction

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

Compensated Pathogenic Deviations

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

14482 (C > A)

General info

Chr
chrM
Start
14482
End
14482
Ref
C
Alt
A
Mitimpact ID
MI.23786
Gene symbol
MT-ND6
RC complex
I
Ensembl gene ID
ENSG00000198695
Ensembl protein ID
ENSP00000354665
Ensembl transcript ID
ENST00000361681
Uniprot name
NU6M_HUMAN
Uniprot ID
P03923
Ncbi gene ID
4541
Ncbi protein ID
YP_003024037.1
Gene position
192
AA pos
64
AA ref
M
AA alt
I
Codon substitution
atG/atT
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
-3.86528 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
SIFT4G
Damaging Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Neutral Score and details of the predictor
Mutation Assessor
Medium 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
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
Neutral Score and details of the predictor

Pathogenicity meta-predictors

APOGEE1
Pathogenic Score and details of the meta-predictor
APOGEE2
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 July2022 CLNSIG
.
ClinVar July2022 CLNDN
.
ClinVar July2022 Variation ID
.
ClinVar July2022 CLNDISDB
.
MITOMAP Allele
14482C>A
MITOMAP Disease Het/Hom
+/+
MITOMAP Disease Clinical info
Lhon
MITOMAP Disease Status
Cfrm [lp]
MITOMAP Disease GenBank Freq
0.003%(0.000%)
MITOMAP Disease GenBank Seqs
2 (0)
MITOMAP Disease GenBank Curated refs
14
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
Gnomad31 filter
.
Gnomad31 AC hom
.
Gnomad31 AC het
.
Gnomad31 AF hom
.
Gnomad31 AF het
.
Gnomad31 AN
.
HelixMTdb AC hom
.
HelixMTdb AF hom
.
HelixMTdb AC het
.
HelixMTdb AF het
.
HelixMTdb mean ARF
.
HelixMTdb max ARF
.
COSMIC 90
.
dbSNP 155
.

Residue interaction

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

Compensated Pathogenic Deviations

Frequency
.
AA ref
.
CPD AA alt
.
Aln pos
.
RefSeq protein ID
.
Species name
.
Ncbi taxon ID
.
~ 14482 (C/G) 14482 (C/A)
~ 14482 (atG/atC) 14482 (atG/atT)
Chr chrM chrM
Start 14482 14482
End 14482 14482
Ref C C
Alt G A
MitImpact id MI.23787 MI.23786
Gene symbol MT-ND6 MT-ND6
Respiratory Chain complex I I
Ensembl gene id ENSG00000198695 ENSG00000198695
Ensembl protein id ENSP00000354665 ENSP00000354665
Ensembl transcript id ENST00000361681 ENST00000361681
Uniprot name NU6M_HUMAN NU6M_HUMAN
Uniprot id P03923 P03923
Ncbi gene id 4541 4541
Ncbi protein id YP_003024037.1 YP_003024037.1
Gene position 192 192
AA position 64 64
AA ref M M
AA alt I I
Codon substitution atG/atC atG/atT
PhyloP 100V -3.86528 -3.86528
PhastCons 100V 0 0
PolyPhen2 probably_damaging probably_damaging
PolyPhen2 score 0.99 0.99
SIFT neutral neutral
SIFT score 0.31 0.31
SIFT4G Damaging Damaging
SIFT4G score 0.003 0.003
FatHmm neutral neutral
FatHmm score -1.75 -1.75
FatHmmW neutral neutral
FatHmmW score 2.16 2.16
PROVEAN neutral neutral
PROVEAN score -1.3 -1.3
MutationAssessor medium impact medium impact
MutationAssessor score 3.06 3.06
EFIN SP damaging damaging
EFIN SP score 0.19 0.19
EFIN HD damaging damaging
EFIN HD score 0.25 0.25
CADD deleterious deleterious
CADD score 2.13 2.63
CADD phred 17.02 20.4
VEST pvalue 0.39 0.39
VEST FDR 0.5 0.5
PANTHER neutral neutral
PANTHER score 0.19 0.19
PhD-SNP disease disease
PhD-SNP score 0.9 0.9
SNAP disease disease
SNAP score 0.61 0.61
Meta-SNP disease disease
Meta-SNP score 0.8 0.8
Meta-SNP RI 6 6
CAROL deleterious deleterious
CAROL score 0.99 0.99
Condel neutral neutral
Condel score 0.16 0.16
COVEC WMV deleterious deleterious
COVEC WMV score 1 1
MtoolBox deleterious deleterious
MtoolBox DS 0.79 0.79
PolyPhen2 transf low impact low impact
PolyPhen2 transf score -2.63 -2.63
SIFT_transf medium impact medium impact
SIFT transf score 0.01 0.01
MutationAssessor transf medium impact medium impact
MutationAssessor transf score 1.42 1.42
CHASM pvalue 0.78 0.78
CHASM FDR 0.85 0.85
APOGEE1 Pathogenic Pathogenic
APOGEE1 score 0.96 0.96
APOGEE2 Pathogenic Pathogenic
APOGEE2 score 0.968812523246929 0.968812523246929
SNPDryad score 0.87 0.87
MutationTaster . .
MutationTaster score . .
DEOGEN2 score 0.33 0.33
Mitoclass.1 damaging damaging
dbSNP 155 id . .
ClinVar July2022 Variation id . .
ClinVar July2022 CLNSIG . .
ClinVar July2022 CLNDN . .
ClinVar July2022 CLNDISDB . .
COSMIC 90 . .
MITOMAP Allele C14482G C14482A
MITOMAP Disease Het/Hom +/+ +/+
MITOMAP Disease Clinical info LHON LHON
MITOMAP Disease Status Cfrm [LP] Cfrm [LP]
MITOMAP Disease GenBank Freq 0.000%(0.000%) 0.003%(0.000%)
MITOMAP Disease GenBank Seqs 0 (0) 2 (0)
MITOMAP Disease GenBank Curated refs 8 14
MITOMAP General GenBank Freq . .
MITOMAP General GenBank Seqs . .
MITOMAP General Curated refs . .
gnomAD 3.1 filter . .
gnomAD 3.1 AC Homo . .
gnomAD 3.1 AC Het . .
gnomAD 3.1 AF Hom . .
gnomAD 3.1 AF Het . .
gnomAD 3.1 AN . .
HelixMTdb AC Hom . .
HelixMTdb AF Hom . .
HelixMTdb AC Het . .
HelixMTdb AF Het . .
HelixMTdb mean ARF . .
HelixMTdb max ARF . .
EVmutation MT-ND6_64M|140I:0.138042;171A:0.090933;170I:0.08143;157G:0.076795;75I:0.070908;101G:0.064738 MT-ND6_64M|140I:0.138042;171A:0.090933;170I:0.08143;157G:0.076795;75I:0.070908;101G:0.064738
Site A InterP ND6_64 ND6_64
Site B InterP ND1_225;ND3_24 ND1_225;ND3_24
Covariation Score InterP mfDCA_26.74;mfDCA_19.8 mfDCA_26.74;mfDCA_19.8
Site A IntraP ND6_64 ND6_64
Site B IntraP ND6_15 ND6_15
Covariation Score IntraP mfDCA_15.0909 mfDCA_15.0909
CPD AA ref . .
CPD AA alt . .
CPD Aln pos . .
CPD Frequency . .
CPD Species name . .
CPD RefSeq Protein ID . .
CPD Ncbi Taxon id . .
DDG intra MT-ND6:M64I:G15R:4.15186:0.754842:3.49027;MT-ND6:M64I:G15V:5.97903:0.754842:5.16697;MT-ND6:M64I:G15W:10.0983:0.754842:9.69947;MT-ND6:M64I:G15A:0.323198:0.754842:-0.423829;MT-ND6:M64I:G15E:5.94936:0.754842:5.18405 MT-ND6:M64I:G15R:4.15186:0.754842:3.49027;MT-ND6:M64I:G15V:5.97903:0.754842:5.16697;MT-ND6:M64I:G15W:10.0983:0.754842:9.69947;MT-ND6:M64I:G15A:0.323198:0.754842:-0.423829;MT-ND6:M64I:G15E:5.94936:0.754842:5.18405
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 <= 0.7
  • Conserved:  score > 0.7 (soft threshold)
Score:  
0
  [min 0, max 1]
  • Neutral:  score <= 0.15
  • Possibly damaging:  0.15 < score <= 0.85
  • Probably damaging:  score > 0.85
Score:  
0
  [min 0, max 1]
  • Neutral:  score > 0.05
  • Deleterious:  score <= 0.05
Score:  
0
  [min 0, max 1]
  • Neutral:  score > 0.05
  • Deleterious:  score <= 0.05
Score:  
0
  [min -15, max 10]
  • Neutral:  score > -3
  • Deleterious:  score <= -3
Score:  
0
  [min -3, max 6]
  • Neutral:  score > -1.5
  • Deleterious:  score <= -1.5
Score:  
0
  [min -14, max 14]
  • Neutral:  score > -2.5
  • Deleterious:  score <= -2.5 (soft threshold)
Score:  
0
  [min -6, max 6]
  • Neutral:  score <= 0.8
  • Low impact:  0.8 < score <= 1.9
  • Medium impact:  1.9 < score <= 3.5
  • High impact:  score > 3.5
Score:  
0
  [min 0, max 1]
  • Neutral:  score > 0.6
  • Damaging:  score <= 0.6
Score:  
0
  [min 0, max 1]
  • Neutral:  score > 0.28
  • Damaging:  score <= 0.28
Phred score:  
0
  [min 0, max 35]
  • Neutral:  score < 20 (soft threshold)
  • Deleterious:  score >= 20
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Disease:  score >= 0.5
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Disease:  score >= 0.5
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Disease:  score >= 0.5
Score:  
0
  [min 0, max 1]
  • Polymorphism:  score < 0.5
  • Disease causing:  score >= 0.5
P-value:  
0
  [min 0, max 1]
  • Neutral:  p-value > 0.05
  • Pathogenic:  p-value <= 0.05
Score:  
0
  [min 0, max 1]
No hard-thresholds were indicated by authors (ref). Indicatively:
  • Neutral:  score < 0.9
  • Pathogenic:  score >= 0.9
No score. Categorical only
Please refer to Additional File 14: Table S10 for further details.
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.98
  • Deleterious:  score >= 0.98
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Disease:  score >= 0.5
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Deleterious:  score >= 0.5
Score:  
0
  [min -6, max 6]
  • Neutral:  score < 0
  • Deleterious:  score > 0
  • Inaccurate prediction:  score = 0
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Deleterious:  score >= 0.5
DS score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.43
  • Deleterious:  score >= 0.43
Pathogenicity score:  
0
  [min 0, max 1]
  • Neutral:  score ≤ 0.5
  • Pathogenic:  score > 0.5


Pathogenicity score for this variant:  
0
  [min 0, max 1]
ACMG-AMP curations for mitochondrial variants should use the raw scores. Standalone probabilities are shown below:
  • Benign:  score ≤ 0.062 (prob. ≤ 0.001)
  • Likely-benign:  0.062 < score ≤ 0.265 (0.001 < prob. ≤ 0.1)
  • Low-scoring VUS (VUS-):  0.265 < score ≤ 0.396 (0.1 < prob. ≤ 0.33)
  • VUS:  0.396 < score ≤ 0.544 (0.33 < prob. ≤ 0.66)
  • High-scoring VUS (VUS+):  0.544 < score < 0.716 (0.66 < prob. < 0.9)
  • Likely-pathogenic:  0.716 ≤ score < 0.907 (0.9 ≤ prob. < 0.99)
  • Pathogenic:  score ≥ 0.907 (prob. ≥ 0.99)
Score:  
0
  [min -5, max 5]
  • Low impact:  score <= -1 (soft threshold)
  • Medium impact:  -1 < score < 1.5 (soft threshold)
  • High impact:  score >= 1.5 (soft threshold)
Score:  
0
  [min -5, max 5]
  • Low impact:  score <= -1
  • Medium impact:  -1 < score < 2 (soft threshold)
  • High impact:  score >= 2 (soft threshold)
Score:  
0
  [min -5, max 5]
  • Low impact:  score <= -1
  • Medium impact:  -1 < score < 2 (soft threshold)
  • High impact:  score >= 2 (soft threshold)
P-value:  
0
  [min 0, max 1]
  • Neutral:  FDR > 0.2
  • Driver:  FDR <= 0.2
The frequency of a CPD variant is proportional to the
number of aligned orthologous sequences that
carry a specific human pathogenic variant as
wild-type amino acid on the total number of aligned
sequences.

For more info, please check the output legend