~ | 8528 (T/C) | 8528 (T/C) | 8528 (T/A) | 8528 (T/G) |
---|---|---|---|---|
~ | 8528 (Tga/Cga) | 8528 (aTg/aCg) | 8528 (aTg/aAg) | 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 | C | A | G |
MitImpact id | MI.1789 | MI.4 | MI.3 | MI.1788 |
Gene symbol | MT-ATP8 | MT-ATP6 | MT-ATP6 | MT-ATP8 |
Respiratory Chain complex | V | V | V | V |
Ensembl gene id | ENSG00000228253 | ENSG00000198899 | ENSG00000198899 | ENSG00000228253 |
Ensembl protein id | ENSP00000355265 | ENSP00000354632 | ENSP00000354632 | ENSP00000355265 |
Ensembl transcript id | ENST00000361851 | ENST00000361899 | ENST00000361899 | ENST00000361851 |
Uniprot name | ATP8_HUMAN | ATP6_HUMAN | ATP6_HUMAN | ATP8_HUMAN |
Uniprot id | P03928 | P00846 | P00846 | P03928 |
Ncbi gene id | 4509 | 4508 | 4508 | 4509 |
Ncbi protein id | YP_003024030.1 | YP_003024031.1 | YP_003024031.1 | YP_003024030.1 |
Gene position | 163 | 2 | 2 | 163 |
AA position | 55 | 1 | 1 | 55 |
AA ref | W | M | M | W |
AA alt | R | T | K | G |
Codon substitution | Tga/Cga | aTg/aCg | aTg/aAg | Tga/Gga |
PhyloP 100V | 7.51165 | 7.51165 | 7.51165 | 7.51165 |
PhastCons 100V | 1 | 1 | 1 | 1 |
PolyPhen2 | probably_damaging | possibly_damaging | possibly_damaging | probably_damaging |
PolyPhen2 score | 1.0 | 0.8 | 0.8 | 0.98 |
SIFT | neutral | deleterious | deleterious | neutral |
SIFT score | 0.31 | 0 | 0 | 0.34 |
SIFT4G | Damaging | Damaging | Damaging | Damaging |
SIFT4G score | 0 | 0 | 0 | 0 |
FatHmm | deleterious | neutral | neutral | deleterious |
FatHmm score | -11.02 | -0.97 | -0.95 | -11.1 |
FatHmmW | neutral | neutral | neutral | neutral |
FatHmmW score | -0.53 | 4.49 | 4.49 | -0.53 |
PROVEAN | deleterious | deleterious | deleterious | deleterious |
PROVEAN score | -12.74 | -4.97 | -4.89 | -12.02 |
MutationAssessor | high impact | . | . | high impact |
MutationAssessor score | 3.7 | . | . | 3.7 |
EFIN SP | neutral | neutral | neutral | neutral |
EFIN SP score | 0.85 | 0.7 | 0.61 | 0.84 |
EFIN HD | damaging | damaging | damaging | damaging |
EFIN HD score | 0.06 | 0.13 | 0.09 | 0.1 |
CADD | deleterious | deleterious | deleterious | deleterious |
CADD score | 3.65 | 3.65 | 6.26 | 3.96 |
CADD phred | 23.2 | 23.2 | 28.9 | 23.6 |
VEST pvalue | 0.15055088 | 0.47 | 0.25 | 0.13200123 |
VEST FDR | 0.85 | 0.65 | 0.65 | 0.85 |
PANTHER | disease | disease | neutral | disease |
PANTHER score | 0.89 | 0.58 | 0.39 | 0.85 |
PhD-SNP | disease | neutral | disease | disease |
PhD-SNP score | 0.74 | 0.5 | 0.57 | 0.71 |
SNAP | disease | disease | disease | disease |
SNAP score | 0.84 | 0.65 | 0.67 | 0.81 |
Meta-SNP | disease | disease | disease | disease |
Meta-SNP score | 0.77 | 0.66 | 0.67 | 0.76 |
Meta-SNP RI | 5 | 3 | 3 | 5 |
CAROL | deleterious | deleterious | deleterious | deleterious |
CAROL score | 1 | 1 | 1 | 0.98 |
Condel | neutral | neutral | neutral | neutral |
Condel score | 0.16 | 0.1 | 0.1 | 0.18 |
COVEC WMV | deleterious | deleterious | deleterious | deleterious |
COVEC WMV score | 2 | 3 | 3 | 2 |
MtoolBox | deleterious | deleterious | deleterious | deleterious |
MtoolBox DS | 0.9 | 0.76 | 0.73 | 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 | 0.08 | 0.24 | 0.42 | 0.06 |
CHASM FDR | 0.85 | 0.9 | 0.9 | 0.85 |
APOGEE1 | Pathogenic | Pathogenic | Pathogenic | Pathogenic |
APOGEE1 score | 0.58 | 0.63 | 0.58 | 0.64 |
APOGEE2 | Likely-pathogenic | Likely-pathogenic | VUS+ | Likely-pathogenic |
APOGEE2 score | 0.841959764587885 | 0.759827033070099 | 0.565745889740842 | 0.820374350074967 |
SNPDryad score | 0.97 | 0.97 | 0.99 | 0.93 |
MutationTaster | disease_causing_automatic | . | . | disease_causing |
MutationTaster score | 0.95 | . | . | 0.98 |
DEOGEN2 score | 0.25 | 0.31 | 0.24 | 0.4 |
Mitoclass.1 | damaging | damaging | damaging | damaging |
dbSNP 155 id | rs387906422 | rs387906422 | . | . |
ClinVar July2022 Variation id | . | 9640 | . | . |
ClinVar July2022 CLNSIG | . | Likely_pathogenic | . | . |
ClinVar July2022 CLNDN | . | Histiocytoid_cardiomyopathy|Cardiomyopathy,_infantile_hypertrophic|Mitochondrial_disease | . | . |
ClinVar July2022 CLNDISDB | . | Human_Phenotype_Ontology:HP:0005152,MONDO:MONDO:0010771,MedGen:C1708371,OMIM:500000,Orphanet:ORPHA137675|MONDO:MONDO:0010777,MedGen:C2748884,OMIM:500006|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380 | . | . |
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 | . | . | . | . |
HelixMTdb AC Hom | . | . | . | . |
HelixMTdb AF Hom | . | . | . | . |
HelixMTdb AC Het | . | . | . | . |
HelixMTdb AF Het | . | . | . | . |
HelixMTdb mean ARF | . | . | . | . | HelixMTdb max ARF | . | . | . | . |
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 | . | . | . | . |