| ~ | 8565 (A/G) | 8565 (A/C) | 8565 (A/T) |
|---|---|---|---|
| ~ | 8565 (CAA/CGA) | 8565 (CAA/CCA) | 8565 (CAA/CTA) |
| MitImpact id | MI.1865 | MI.1867 | MI.1866 |
| Chr | chrM | chrM | chrM |
| Start | 8565 | 8565 | 8565 |
| Ref | A | A | A |
| Alt | G | C | T |
| 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 | 200 | 200 | 200 |
| Gene start | 8366 | 8366 | 8366 |
| Gene end | 8572 | 8572 | 8572 |
| Gene strand | + | + | + |
| Codon substitution | CAA/CGA | CAA/CCA | CAA/CTA |
| AA position | 67 | 67 | 67 |
| AA ref | Q | Q | Q |
| AA alt | R | P | L |
| Functional effect general | missense | missense | missense |
| Functional effect detailed | missense | missense | missense |
| OMIM id | 516070 | 516070 | 516070 |
| HGVS | NC_012920.1:g.8565A>G | NC_012920.1:g.8565A>C | NC_012920.1:g.8565A>T |
| 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 | -0.795 | -0.795 | -0.795 |
| PhyloP 470Way | 0.929 | 0.929 | 0.929 |
| PhastCons 100V | 0 | 0 | 0 |
| PhastCons 470Way | 0.041 | 0.041 | 0.041 |
| PolyPhen2 | benign | benign | benign |
| PolyPhen2 score | 0.0 | 0.06 | 0.01 |
| SIFT | neutral | neutral | neutral |
| SIFT score | 0.38 | 0.2 | 0.65 |
| SIFT4G | Damaging | Damaging | Damaging |
| SIFT4G score | 0.041 | 0.001 | 0.001 |
| VEST | Neutral | Neutral | Neutral |
| VEST pvalue | 0.83186441 | 0.5726291 | 0.67403744 |
| VEST FDR | 0.9 | 0.85 | 0.85 |
| Mitoclass.1 | neutral | neutral | neutral |
| SNPDryad | Neutral | Neutral | Neutral |
| SNPDryad score | 0.55 | 0.72 | 0.77 |
| MutationTaster | Polymorphism | Polymorphism | Polymorphism |
| MutationTaster score | 1 | 1 | 1 |
| MutationTaster converted rankscore | 0.19072 | 0.19072 | 0.19072 |
| MutationTaster model | simple_aae | simple_aae | simple_aae |
| MutationTaster AAE | Q67R | Q67P | Q67L |
| fathmm | Tolerated | Tolerated | Tolerated |
| fathmm score | 1.89 | 1.73 | 1.76 |
| fathmm converted rankscore | 0.23688 | 0.26445 | 0.25996 |
| AlphaMissense | likely_benign | likely_benign | likely_benign |
| AlphaMissense score | 0.0915 | 0.0836 | 0.1277 |
| CADD | Neutral | Neutral | Neutral |
| CADD score | 0.52983 | 1.542602 | 1.92504 |
| CADD phred | 7.655 | 13.54 | 15.74 |
| PROVEAN | Tolerated | Damaging | Damaging |
| PROVEAN score | -2.22 | -3.71 | -3.84 |
| MutationAssessor | . | . | . |
| MutationAssessor score | . | . | . |
| EFIN SP | Neutral | Neutral | Neutral |
| EFIN SP score | 1.0 | 0.968 | 0.984 |
| EFIN HD | Neutral | Damaging | Neutral |
| EFIN HD score | 0.578 | 0.244 | 0.382 |
| MLC | Neutral | Neutral | Neutral |
| MLC score | 0.02884906 | 0.02884906 | 0.02884906 |
| PANTHER score | . | . | . |
| PhD-SNP score | . | . | . |
| APOGEE1 | Pathogenic | Neutral | Neutral |
| APOGEE1 score | 0.52 | 0.49 | 0.37 |
| APOGEE2 | Likely-benign | Likely-benign | Likely-benign |
| APOGEE2 score | 0.126857248383322 | 0.188017307792477 | 0.177710732388011 |
| CAROL | neutral | neutral | neutral |
| CAROL score | 0.62 | 0.78 | 0.33 |
| Condel | deleterious | deleterious | deleterious |
| Condel score | 0.69 | 0.57 | 0.82 |
| COVEC WMV | neutral | neutral | neutral |
| COVEC WMV score | -6 | -6 | -3 |
| MtoolBox | neutral | neutral | neutral |
| MtoolBox DS | 0.14 | 0.23 | 0.19 |
| DEOGEN2 | Tolerated | Tolerated | Tolerated |
| DEOGEN2 score | 0.082432 | 0.10545 | 0.097619 |
| DEOGEN2 converted rankscore | 0.36827 | 0.41592 | 0.40063 |
| Meta-SNP | . | . | . |
| Meta-SNP score | . | . | . |
| PolyPhen2 transf | high impact | medium impact | medium impact |
| PolyPhen2 transf score | 2.09 | 0.38 | 1.14 |
| SIFT_transf | medium impact | medium impact | medium impact |
| SIFT transf score | 0.17 | -0.05 | 0.44 |
| MutationAssessor transf | medium impact | medium impact | medium impact |
| MutationAssessor transf score | 0.45 | 0.5 | 0.61 |
| CHASM | Neutral | Neutral | Neutral |
| CHASM pvalue | 0.55 | 0.67 | 0.46 |
| CHASM FDR | 0.85 | 0.85 | 0.85 |
| ClinVar id | 235492.0 | . | . |
| ClinVar Allele id | 237174.0 | . | . |
| ClinVar CLNDISDB | MedGen:CN517202 | . | . |
| ClinVar CLNDN | not_provided | . | . |
| ClinVar CLNSIG | Uncertain_significance | . | . |
| MITOMAP Disease Clinical info | . | . | . |
| MITOMAP Disease Status | . | . | . |
| MITOMAP Disease Hom/Het | ./. | ./. | ./. |
| MITOMAP General GenBank Freq | 0.0082% | . | 0.0% |
| MITOMAP General GenBank Seqs | 5 | . | 0 |
| MITOMAP General Curated refs | 31152278;25941154 | . | . |
| MITOMAP Variant Class | polymorphism | . | polymorphism |
| gnomAD 3.1 AN | 56433.0 | . | 56434.0 |
| gnomAD 3.1 AC Homo | 4.0 | . | 1.0 |
| gnomAD 3.1 AF Hom | 7.088050000000001e-05 | . | 1.77198e-05 |
| gnomAD 3.1 AC Het | 0.0 | . | 0.0 |
| gnomAD 3.1 AF Het | 0.0 | . | 0.0 |
| gnomAD 3.1 filter | PASS | . | PASS |
| HelixMTdb AC Hom | 31.0 | . | 1.0 |
| HelixMTdb AF Hom | 0.00015817699 | . | 5.1024836e-06 |
| HelixMTdb AC Het | 2.0 | . | 1.0 |
| HelixMTdb AF Het | 1.0204967e-05 | . | 5.1024836e-06 |
| HelixMTdb mean ARF | 0.18356 | . | 0.7062 |
| HelixMTdb max ARF | 0.28458 | . | 0.7062 |
| ToMMo 54KJPN AC | 1 | . | . |
| ToMMo 54KJPN AF | 1.8e-05 | . | . |
| ToMMo 54KJPN AN | 54302 | . | . |
| COSMIC 90 | . | . | . |
| dbSNP 156 id | rs878853052 | . | . |
