~ | 8382 (C/T) | 8382 (C/A) | 8382 (C/G) |
---|---|---|---|
~ | 8382 (ACT/ATT) | 8382 (ACT/AAT) | 8382 (ACT/AGT) |
MitImpact id | MI.1481 | MI.1480 | MI.1482 |
Chr | chrM | chrM | chrM |
Start | 8382 | 8382 | 8382 |
Ref | C | C | C |
Alt | T | A | G |
Gene symbol | MT-ATP8 | MT-ATP8 | MT-ATP8 |
Extended annotation | mitochondrially encoded ATP synthase membrane subunit 8 | mitochondrially encoded ATP synthase membrane subunit 8 | mitochondrially encoded ATP synthase membrane subunit 8 |
Gene position | 17 | 17 | 17 |
Gene start | 8366 | 8366 | 8366 |
Gene end | 8572 | 8572 | 8572 |
Gene strand | + | + | + |
Codon substitution | ACT/ATT | ACT/AAT | ACT/AGT |
AA position | 6 | 6 | 6 |
AA ref | T | T | T |
AA alt | I | N | S |
Functional effect general | missense | missense | missense |
Functional effect detailed | missense | missense | missense |
OMIM id | 516070 | 516070 | 516070 |
HGVS | NC_012920.1:g.8382C>T | NC_012920.1:g.8382C>A | NC_012920.1:g.8382C>G |
HGNC id | 7415 | 7415 | 7415 |
Respiratory Chain complex | V | V | V |
Ensembl gene id | ENSG00000228253 | ENSG00000228253 | ENSG00000228253 |
Ensembl transcript id | ENST00000361851 | ENST00000361851 | ENST00000361851 |
Ensembl protein id | ENSP00000355265 | ENSP00000355265 | ENSP00000355265 |
Uniprot id | P03928 | P03928 | P03928 |
Uniprot name | ATP8_HUMAN | ATP8_HUMAN | ATP8_HUMAN |
Ncbi gene id | 4509 | 4509 | 4509 |
Ncbi protein id | YP_003024030.1 | YP_003024030.1 | YP_003024030.1 |
PhyloP 100V | 4.778 | 4.778 | 4.778 |
PhyloP 470Way | 0.65 | 0.65 | 0.65 |
PhastCons 100V | 0.989 | 0.989 | 0.989 |
PhastCons 470Way | 0.044 | 0.044 | 0.044 |
PolyPhen2 | probably_damaging | probably_damaging | probably_damaging |
PolyPhen2 score | 0.99 | 0.99 | 0.97 |
SIFT | neutral | neutral | neutral |
SIFT score | 0.2 | 0.05 | 0.08 |
SIFT4G | Damaging | Damaging | Damaging |
SIFT4G score | 0.049 | 0.0 | 0.0 |
VEST | Neutral | Neutral | Neutral |
VEST pvalue | 0.57868449 | 0.61963595 | 0.57868449 |
VEST FDR | 0.85 | 0.85 | 0.85 |
Mitoclass.1 | damaging | damaging | damaging |
SNPDryad | Neutral | Neutral | Neutral |
SNPDryad score | 0.76 | 0.85 | 0.77 |
MutationTaster | Disease | Disease | Disease |
MutationTaster score | 0.959504 | 0.957663 | 0.69013 |
MutationTaster converted rankscore | 0.38130 | 0.38035 | 0.33318 |
MutationTaster model | simple_aae | simple_aae | simple_aae |
MutationTaster AAE | T6I | T6N | T6S |
fathmm | Tolerated | Tolerated | Tolerated |
fathmm score | 1.52 | 1.48 | 1.5 |
fathmm converted rankscore | 0.30669 | 0.31731 | 0.31205 |
AlphaMissense | likely_benign | likely_benign | likely_benign |
AlphaMissense score | 0.2615 | 0.2873 | 0.2453 |
CADD | Deleterious | Deleterious | Deleterious |
CADD score | 3.88708 | 3.499238 | 3.429668 |
CADD phred | 23.5 | 23.1 | 23.0 |
PROVEAN | Damaging | Damaging | Damaging |
PROVEAN score | -4.99 | -4.66 | -3.66 |
MutationAssessor | . | . | . |
MutationAssessor score | . | . | . |
EFIN SP | Neutral | Neutral | Neutral |
EFIN SP score | 0.98 | 0.994 | 0.994 |
EFIN HD | Neutral | Neutral | Neutral |
EFIN HD score | 0.532 | 0.428 | 0.464 |
MLC | Neutral | Neutral | Neutral |
MLC score | 0.12426821 | 0.12426821 | 0.12426821 |
PANTHER score | . | . | . |
PhD-SNP score | . | . | . |
APOGEE1 | Pathogenic | Pathogenic | Pathogenic |
APOGEE1 score | 0.68 | 0.69 | 0.71 |
APOGEE2 | Likely-benign | Likely-benign | Likely-benign |
APOGEE2 score | 0.100928815450844 | 0.209933349443126 | 0.117114818508475 |
CAROL | deleterious | deleterious | deleterious |
CAROL score | 0.99 | 1 | 0.99 |
Condel | neutral | neutral | neutral |
Condel score | 0.11 | 0.03 | 0.06 |
COVEC WMV | deleterious | deleterious | deleterious |
COVEC WMV score | 1 | 1 | 1 |
MtoolBox | deleterious | deleterious | deleterious |
MtoolBox DS | 0.77 | 0.76 | 0.71 |
DEOGEN2 | Tolerated | Tolerated | Tolerated |
DEOGEN2 score | 0.23583 | 0.404074 | 0.406067 |
DEOGEN2 converted rankscore | 0.60318 | 0.76065 | 0.76207 |
Meta-SNP | . | . | . |
Meta-SNP score | . | . | . |
PolyPhen2 transf | low impact | low impact | low impact |
PolyPhen2 transf score | -2.65 | -2.65 | -2.19 |
SIFT_transf | medium impact | medium impact | medium impact |
SIFT transf score | -0.05 | -0.43 | -0.31 |
MutationAssessor transf | medium impact | medium impact | medium impact |
MutationAssessor transf score | 0.57 | 1.77 | 1.47 |
CHASM | Neutral | Neutral | Neutral |
CHASM pvalue | 0.63 | 0.73 | 0.62 |
CHASM FDR | 0.85 | 0.85 | 0.85 |
ClinVar id | 445618.0 | . | . |
ClinVar Allele id | 438890.0 | . | . |
ClinVar CLNDISDB | MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:506 | . | . |
ClinVar CLNDN | not_provided|Leigh_syndrome | . | . |
ClinVar CLNSIG | Uncertain_significance | . | . |
MITOMAP Disease Clinical info | Suspected mito disease / optic neuropathy | . | . |
MITOMAP Disease Status | Reported | . | . |
MITOMAP Disease Hom/Het | -/+ | ./. | ./. |
MITOMAP General GenBank Freq | 0.0147% | . | 0.0% |
MITOMAP General GenBank Seqs | 9 | . | 0 |
MITOMAP General Curated refs | 38465286;32858252 | . | . |
MITOMAP Variant Class | polymorphism;disease | . | polymorphism |
gnomAD 3.1 AN | 56431.0 | . | 56434.0 |
gnomAD 3.1 AC Homo | 3.0 | . | 0.0 |
gnomAD 3.1 AF Hom | 5.31623e-05 | . | 0.0 |
gnomAD 3.1 AC Het | 0.0 | . | 1.0 |
gnomAD 3.1 AF Het | 0.0 | . | 1.77198e-05 |
gnomAD 3.1 filter | PASS | . | PASS |
HelixMTdb AC Hom | 13.0 | . | 0.0 |
HelixMTdb AF Hom | 6.6332286e-05 | . | 0.0 |
HelixMTdb AC Het | 4.0 | . | 1.0 |
HelixMTdb AF Het | 2.0409934e-05 | . | 5.1024836e-06 |
HelixMTdb mean ARF | 0.22185 | . | 0.18907 |
HelixMTdb max ARF | 0.32075 | . | 0.18907 |
ToMMo 54KJPN AC | 4 | . | . |
ToMMo 54KJPN AF | 7.4e-05 | . | . |
ToMMo 54KJPN AN | 54302 | . | . |
COSMIC 90 | . | . | . |
dbSNP 156 id | rs1556423437 | . | . |