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14568 (C > T)

General info

Chr
chrM
Start
14568
End
14568
Ref
C
Alt
T
Mitimpact ID
MI.23971
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
106
AA pos
36
AA ref
G
AA alt
S
Codon substitution
Ggt/Agt
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Powered by MitoWheel

Conservation

PhyloP 100v
2.12762 Conservation Score
PhastCons 100v
0.905512 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
Deleterious Score and details of the predictor
Mutation Assessor
Low 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
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

APOGEE1
Pathogenic Score and details of the meta-predictor
APOGEE2
Likely-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
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
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
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
14568C>T
MITOMAP Disease Het/Hom
+/-
MITOMAP Disease Clinical info
Lhon
MITOMAP Disease Status
Cfrm [lp]
MITOMAP Disease GenBank Freq
0.010%(0.000%)
MITOMAP Disease GenBank Seqs
6 (0)
MITOMAP Disease GenBank Curated refs
11
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
Gnomad31 filter
Pass
Gnomad31 AC hom
1
Gnomad31 AC het
1
Gnomad31 AF hom
0.000017719814
Gnomad31 AF het
0.000017719814
Gnomad31 AN
56434
HelixMTdb AC hom
2.0
HelixMTdb AF hom
1.0204967e-05
HelixMTdb AC het
1.0
HelixMTdb AF het
5.1024836e-06
HelixMTdb mean ARF
0.32326
HelixMTdb max ARF
0.32326
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
.

14568 (C > A)

General info

Chr
chrM
Start
14568
End
14568
Ref
C
Alt
A
Mitimpact ID
MI.23970
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
106
AA pos
36
AA ref
G
AA alt
C
Codon substitution
Ggt/Tgt
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
2.12762 Conservation Score
PhastCons 100v
0.905512 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
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
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
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

APOGEE1
Pathogenic Score and details of the meta-predictor
APOGEE2
Vus+ 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
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
.
MITOMAP Disease Het/Hom
.
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease GenBank Freq
.
MITOMAP Disease GenBank Seqs
.
MITOMAP Disease GenBank Curated refs
.
MITOMAP General GenBank Freq
0
MITOMAP General GenBank Seqs
0
MITOMAP General GenBank Curated refs
1
Gnomad31 filter
Npg
Gnomad31 AC hom
0
Gnomad31 AC het
0
Gnomad31 AF hom
0
Gnomad31 AF het
0
Gnomad31 AN
56433
HelixMTdb AC hom
0.0
HelixMTdb AF hom
0.0
HelixMTdb AC het
1.0
HelixMTdb AF het
5.1024836e-06
HelixMTdb mean ARF
0.14658
HelixMTdb max ARF
0.14658
COSMIC 90
COSM1138273
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
.

14568 (C > G)

General info

Chr
chrM
Start
14568
End
14568
Ref
C
Alt
G
Mitimpact ID
MI.23969
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
106
AA pos
36
AA ref
G
AA alt
R
Codon substitution
Ggt/Cgt
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
2.12762 Conservation Score
PhastCons 100v
0.905512 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
Deleterious Score and details of the predictor
Mutation Assessor
High impact Score and details of the predictor
EFIN SP
Neutral 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
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

APOGEE1
Pathogenic Score and details of the meta-predictor
APOGEE2
Likely-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
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
.
MITOMAP Disease Het/Hom
.
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease GenBank Freq
.
MITOMAP Disease GenBank Seqs
.
MITOMAP Disease GenBank Curated refs
.
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
.
~ 14568 (C/T) 14568 (C/A) 14568 (C/G)
~ 14568 (Ggt/Agt) 14568 (Ggt/Tgt) 14568 (Ggt/Cgt)
Chr chrM chrM chrM
Start 14568 14568 14568
End 14568 14568 14568
Ref C C C
Alt T A G
MitImpact id MI.23971 MI.23970 MI.23969
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 106 106 106
AA position 36 36 36
AA ref G G G
AA alt S C R
Codon substitution Ggt/Agt Ggt/Tgt Ggt/Cgt
PhyloP 100V 2.12762 2.12762 2.12762
PhastCons 100V 0.905512 0.905512 0.905512
PolyPhen2 probably_damaging probably_damaging probably_damaging
PolyPhen2 score 1 1 1
SIFT neutral neutral neutral
SIFT score 0.64 0.23 0.33
SIFT4G Damaging Damaging Damaging
SIFT4G score 0.036 0.001 0
FatHmm neutral neutral neutral
FatHmm score 2.17 -0.48 -1.39
FatHmmW neutral neutral neutral
FatHmmW score 2.47 2.31 2.29
PROVEAN deleterious deleterious deleterious
PROVEAN score -5.99 -8.98 -7.98
MutationAssessor low impact medium impact high impact
MutationAssessor score 1.72 3.25 3.6
EFIN SP damaging neutral neutral
EFIN SP score 0.27 0.67 0.61
EFIN HD damaging damaging damaging
EFIN HD score 0.23 0.27 0.26
CADD deleterious deleterious deleterious
CADD score 4.27 4.54 3.99
CADD phred 24.0 24.3 23.6
VEST pvalue 0.42 0.21 0.13
VEST FDR 0.55 0.45 0.4
PANTHER neutral disease disease
PANTHER score 0.23 0.69 0.65
PhD-SNP disease disease disease
PhD-SNP score 0.52 0.92 0.93
SNAP neutral disease disease
SNAP score 0.37 0.67 0.78
Meta-SNP neutral disease disease
Meta-SNP score 0.46 0.81 0.85
Meta-SNP RI 1 6 7
CAROL deleterious deleterious deleterious
CAROL score 1.0 1.0 1.0
Condel neutral neutral neutral
Condel score 0.32 0.12 0.17
COVEC WMV neutral deleterious deleterious
COVEC WMV score -2 1 2
MtoolBox deleterious deleterious deleterious
MtoolBox DS 0.73 0.88 0.89
PolyPhen2 transf low impact low impact low impact
PolyPhen2 transf score -3.55 -3.55 -3.55
SIFT_transf medium impact medium impact medium impact
SIFT transf score 0.35 -0.09 0.04
MutationAssessor transf medium impact medium impact medium impact
MutationAssessor transf score 0.3 1.58 1.88
CHASM pvalue 0.77 0.79 0.76
CHASM FDR 0.85 0.85 0.85
APOGEE1 Pathogenic Pathogenic Pathogenic
APOGEE1 score 0.9 0.53 0.57
APOGEE2 Likely-pathogenic VUS+ Likely-pathogenic
APOGEE2 score 0.834105016797609 0.711721415386645 0.75963680264494
SNPDryad score 1.0 0.97 1.0
MutationTaster . . .
MutationTaster score . . .
DEOGEN2 score 0.53 0.57 0.7
Mitoclass.1 neutral damaging damaging
dbSNP 155 id . . .
ClinVar July2022 Variation id . . .
ClinVar July2022 CLNSIG . . .
ClinVar July2022 CLNDN . . .
ClinVar July2022 CLNDISDB . . .
COSMIC 90 . COSM1138273 .
MITOMAP Allele C14568T . .
MITOMAP Disease Het/Hom +/- . .
MITOMAP Disease Clinical info LHON . .
MITOMAP Disease Status Cfrm [LP] . .
MITOMAP Disease GenBank Freq 0.010%(0.000%) . .
MITOMAP Disease GenBank Seqs 6 (0) . .
MITOMAP Disease GenBank Curated refs 11 . .
MITOMAP General GenBank Freq . 0 .
MITOMAP General GenBank Seqs . 0 .
MITOMAP General Curated refs . 1 .
gnomAD 3.1 filter PASS npg .
gnomAD 3.1 AC Homo 1 0 .
gnomAD 3.1 AC Het 1 0 .
gnomAD 3.1 AF Hom 0.000017719814 0 .
gnomAD 3.1 AF Het 0.000017719814 0 .
gnomAD 3.1 AN 56434 56433 .
HelixMTdb AC Hom 2.0 0.0 .
HelixMTdb AF Hom 1.0204967e-05 0.0 .
HelixMTdb AC Het 1.0 1.0 .
HelixMTdb AF Het 5.1024836e-06 5.1024836e-06 .
HelixMTdb mean ARF 0.32326 0.14658 .
HelixMTdb max ARF 0.32326 0.14658 .
EVmutation MT-ND6_36G|153V:0.10776;68G:0.106159;52G:0.097427;149G:0.078428;161F:0.072288;39G:0.071381;171A:0.065204 MT-ND6_36G|153V:0.10776;68G:0.106159;52G:0.097427;149G:0.078428;161F:0.072288;39G:0.071381;171A:0.065204 MT-ND6_36G|153V:0.10776;68G:0.106159;52G:0.097427;149G:0.078428;161F:0.072288;39G:0.071381;171A:0.065204
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 Frequency . . .
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 <= 0.7
  • 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