8528 (T > C)

General info

Chr
chrM
Start
8528
End
8528
Ref
T
Alt
C
Mitimpact ID
MI.4
Gene symbol
MT-ATP6
RC complex
V
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
2
AA pos
1
AA ref
M
AA alt
T
Codon substitution
aTg/aCg
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Conservation

PhyloP 100v
5.68 Conservation Score
PhastCons 100v
1 Conservation Score

Pathogenicity predictors

PolyPhen2
Possibly damaging Score and details of the predictor
SIFT
Deleterious 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
.
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
Neutral 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

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
Neutral Score and details of the meta-predictor

Cancer-specific predictors

PolyPhen2 transf
.
SIFT transf
.
MutationAssessor transf
.
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Phenotypes

ClinVar October2021 CLNSIG
.
ClinVar October2021 CLNDN
.
ClinVar October2021 Variation ID
ClinVar October2021 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
.
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
.

8528 (T > A)

General info

Chr
chrM
Start
8528
End
8528
Ref
T
Alt
A
Mitimpact ID
MI.3
Gene symbol
MT-ATP6
RC complex
V
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
2
AA pos
1
AA ref
M
AA alt
K
Codon substitution
aTg/aAg
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Conservation

PhyloP 100v
5.68 Conservation Score
PhastCons 100v
1 Conservation Score

Pathogenicity predictors

PolyPhen2
Possibly damaging Score and details of the predictor
SIFT
Deleterious 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
.
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
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
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
Neutral Score and details of the meta-predictor

Cancer-specific predictors

PolyPhen2 transf
.
SIFT transf
.
MutationAssessor transf
.
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Phenotypes

ClinVar October2021 CLNSIG
.
ClinVar October2021 CLNDN
.
ClinVar October2021 Variation ID
ClinVar October2021 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
.
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
.

8528 (T > C)

General info

Chr
chrM
Start
8528
End
8528
Ref
T
Alt
C
Mitimpact ID
MI.1789
Gene symbol
MT-ATP8
RC complex
V
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
163
AA pos
55
AA ref
W
AA alt
R
Codon substitution
Tga/Cga
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Powered by MitoWheel

Conservation

PhyloP 100v
5.68 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
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
Disease causing automatic Score and details of the predictor
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

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
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
High impact Score and details of the cancer-specific predictor
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Phenotypes

ClinVar October2021 CLNSIG
Pathogenic
ClinVar October2021 CLNDN
Histiocytoid cardiomyopathy;

cardiomyopathy, infantile hypertrophic
ClinVar October2021 Variation ID
ClinVar October2021 CLNDISDB
Human phenotype ontology:hp:0005152, mondo:mondo:0010771, medgen:c1708371, omim:500000, orphanet:orpha137675;

mondo:mondo:0010777, medgen:c2748884, omim:500006
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
.
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
.

8528 (T > G)

General info

Chr
chrM
Start
8528
End
8528
Ref
T
Alt
G
Mitimpact ID
MI.1788
Gene symbol
MT-ATP8
RC complex
V
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
163
AA pos
55
AA ref
W
AA alt
G
Codon substitution
Tga/Gga
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
5.68 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
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
Disease causing Score and details of the predictor
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

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
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
High impact Score and details of the cancer-specific predictor
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Phenotypes

ClinVar October2021 CLNSIG
.
ClinVar October2021 CLNDN
.
ClinVar October2021 Variation ID
ClinVar October2021 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
.
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
.
~ 8528 (T/C) 8528 (T/A) 8528 (T/C) 8528 (T/G)
~ 8528 (aTg/aCg) 8528 (aTg/aAg) 8528 (Tga/Cga) 8528 (Tga/Gga)
Chr chrM chrM chrM chrM
Start 8528 8528 8528 8528
End 8528 8528 8528 8528
Ref T T T T
Alt C A C G
MitImpact id MI.4 MI.3 MI.1789 MI.1788
Gene symbol MT-ATP6 MT-ATP6 MT-ATP8 MT-ATP8
Respiratory Chain complex V V V V
Ensembl gene id ENSG00000198899 ENSG00000198899 ENSG00000228253 ENSG00000228253
Ensembl protein id ENSP00000354632 ENSP00000354632 ENSP00000355265 ENSP00000355265
Ensembl transcript id ENST00000361899 ENST00000361899 ENST00000361851 ENST00000361851
Uniprot name ATP6_HUMAN ATP6_HUMAN ATP8_HUMAN ATP8_HUMAN
Uniprot id P00846 P00846 P03928 P03928
Ncbi gene id 4508 4508 4509 4509
Ncbi protein id YP_003024031.1 YP_003024031.1 YP_003024030.1 YP_003024030.1
Gene position 2 2 163 163
AA position 1 1 55 55
AA ref M M W W
AA alt T K R G
Codon substitution aTg/aCg aTg/aAg Tga/Cga Tga/Gga
PhyloP 100V 5.68 5.68 5.68 5.68
PhastCons 100V 1 1 1 1
PolyPhen2 possibly_damaging possibly_damaging probably_damaging probably_damaging
PolyPhen2 score 0.8 0.8 1 0.98
SIFT deleterious deleterious neutral neutral
SIFT score 0 0 0.31 0.34
FatHmm neutral neutral deleterious deleterious
FatHmm score -0.97 -0.95 -11.02 -11.1
FatHmmW neutral neutral neutral neutral
FatHmmW score 4.49 4.49 -0.53 -0.53
PROVEAN deleterious deleterious deleterious deleterious
PROVEAN score -4.97 -4.89 -12.74 -12.02
MutationAssessor . . high impact high impact
MutationAssessor score . . 3.7 3.7
EFIN SP neutral neutral neutral neutral
EFIN SP score 0.7 0.61 0.85 0.84
EFIN HD damaging damaging damaging damaging
EFIN HD score 0.13 0.09 0.06 0.1
CADD deleterious deleterious deleterious deleterious
CADD score 3.65 6.26 3.65 3.96
CADD phred 23.2 28.9 23.2 23.6
VEST pvalue 0.47 0.25 0.15055088 0.13200123
VEST FDR 0.65 0.65 0.85 0.85
PANTHER disease neutral disease disease
PANTHER score 0.58 0.39 0.89 0.85
PhD-SNP neutral disease disease disease
PhD-SNP score 0.5 0.57 0.74 0.71
SNAP disease disease disease disease
SNAP score 0.65 0.67 0.84 0.81
Meta-SNP disease disease disease disease
Meta-SNP score 0.66 0.67 0.77 0.76
Meta-SNP RI 3 3 5 5
CAROL deleterious deleterious deleterious deleterious
CAROL score 1 1 1 0.98
Condel neutral neutral neutral neutral
Condel score 0.1 0.1 0.16 0.18
COVEC WMV deleterious deleterious deleterious deleterious
COVEC WMV score 3 3 2 2
MtoolBox deleterious deleterious deleterious deleterious
MtoolBox DS 0.76 0.73 0.9 0.87
PolyPhen2 transf . . low impact low impact
PolyPhen2 transf score . . -3.6 -2.36
SIFT_transf . . medium impact medium impact
SIFT transf score . . 0.1 0.13
MutationAssessor transf . . high impact high impact
MutationAssessor transf score . . 2.07 2.07
CHASM pvalue 0.24 0.42 0.08 0.06
CHASM FDR 0.9 0.9 0.85 0.85
APOGEE Pathogenic Pathogenic Pathogenic Pathogenic
APOGEE score 0.63 0.58 0.58 0.64
SNPDryad score 0.97 0.99 0.97 0.93
MutationTaster . . disease_causing_automatic disease_causing
MutationTaster score . . 0.95 0.98
DEOGEN2 score 0.31 0.24 0.25 0.4
Mitoclass.1 damaging damaging damaging damaging
dbSNP 155 id rs387906422 . rs387906422 .
ClinVar October2021 Variation id . . 9640 .
ClinVar October2021 CLNSIG . . Pathogenic .
ClinVar October2021 CLNDN . . Histiocytoid_cardiomyopathy|Cardiomyopathy,_infantile_hypertrophic .
ClinVar October2021 CLNDISDB . . Human_Phenotype_Ontology:HP:0005152,MONDO:MONDO:0010771,MedGen:C1708371,OMIM:500000,Orphanet:ORPHA137675|MONDO:MONDO:0010777,MedGen:C2748884,OMIM:500006 .
COSMIC 90 . . . .
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 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 . . . .
EVmutation . . . .
Site A InterP . . ATP8_55 ATP8_55
Site B InterP . . ATP6_2;ATP6_36 ATP6_2;ATP6_36
Covariation Score InterP . . mfDCA_49.75;mfDCA_32.8 mfDCA_49.75;mfDCA_32.8
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 <= 0.9
  • 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