| ~ | 9184 (C/T) | 9184 (C/A) | 9184 (C/G) |
|---|---|---|---|
| ~ | 9184 (CTC/TTC) | 9184 (CTC/ATC) | 9184 (CTC/GTC) |
| MitImpact id | MI.1400 | MI.1398 | MI.1399 |
| Chr | chrM | chrM | chrM |
| Start | 9184 | 9184 | 9184 |
| Ref | C | C | C |
| Alt | T | A | G |
| Gene symbol | MT-ATP6 | MT-ATP6 | MT-ATP6 |
| Extended annotation | mitochondrially encoded ATP synthase membrane subunit 6 | mitochondrially encoded ATP synthase membrane subunit 6 | mitochondrially encoded ATP synthase membrane subunit 6 |
| Gene position | 658 | 658 | 658 |
| Gene start | 8527 | 8527 | 8527 |
| Gene end | 9207 | 9207 | 9207 |
| Gene strand | + | + | + |
| Codon substitution | CTC/TTC | CTC/ATC | CTC/GTC |
| AA position | 220 | 220 | 220 |
| AA ref | L | L | L |
| AA alt | F | I | V |
| Functional effect general | missense | missense | missense |
| Functional effect detailed | missense | missense | missense |
| OMIM id | 516060 | 516060 | 516060 |
| HGVS | NC_012920.1:g.9184C>T | NC_012920.1:g.9184C>A | NC_012920.1:g.9184C>G |
| HGNC id | 7414 | 7414 | 7414 |
| Respiratory Chain complex | V | V | V |
| Ensembl gene id | ENSG00000198899 | ENSG00000198899 | ENSG00000198899 |
| Ensembl transcript id | ENST00000361899 | ENST00000361899 | ENST00000361899 |
| Ensembl protein id | ENSP00000354632 | ENSP00000354632 | ENSP00000354632 |
| Uniprot id | P00846 | P00846 | P00846 |
| Uniprot name | ATP6_HUMAN | ATP6_HUMAN | ATP6_HUMAN |
| Ncbi gene id | 4508 | 4508 | 4508 |
| Ncbi protein id | YP_003024031.1 | YP_003024031.1 | YP_003024031.1 |
| PhyloP 100V | 0.84 | 0.84 | 0.84 |
| PhyloP 470Way | -0.513 | -0.513 | -0.513 |
| PhastCons 100V | 0.508 | 0.508 | 0.508 |
| PhastCons 470Way | 0.705 | 0.705 | 0.705 |
| PolyPhen2 | probably_damaging | probably_damaging | probably_damaging |
| PolyPhen2 score | 1.0 | 0.99 | 0.99 |
| SIFT | neutral | neutral | deleterious |
| SIFT score | 0.08 | 0.09 | 0 |
| SIFT4G | Damaging | Damaging | Damaging |
| SIFT4G score | 0.001 | 0.014 | 0.001 |
| VEST | Neutral | Neutral | Neutral |
| VEST pvalue | 0.46 | 0.44 | 0.46 |
| VEST FDR | 0.65 | 0.65 | 0.65 |
| Mitoclass.1 | damaging | damaging | damaging |
| SNPDryad | Pathogenic | Neutral | Neutral |
| SNPDryad score | 0.97 | 0.87 | 0.87 |
| MutationTaster | Disease | Disease | Disease |
| MutationTaster score | 0.998904 | 0.990082 | 0.994474 |
| MutationTaster converted rankscore | 0.45657 | 0.41084 | 0.42296 |
| MutationTaster model | simple_aae | simple_aae | simple_aae |
| MutationTaster AAE | L220F | L220I | L220V |
| fathmm | Tolerated | Tolerated | Tolerated |
| fathmm score | 4.22 | 4.27 | 4.39 |
| fathmm converted rankscore | 0.02640 | 0.02513 | 0.02234 |
| AlphaMissense | likely_pathogenic | ambiguous | likely_pathogenic |
| AlphaMissense score | 0.7622 | 0.5041 | 0.5961 |
| CADD | Deleterious | Deleterious | Deleterious |
| CADD score | 4.119049 | 4.164678 | 3.541249 |
| CADD phred | 23.8 | 23.8 | 23.1 |
| PROVEAN | Damaging | Tolerated | Damaging |
| PROVEAN score | -3.54 | -1.77 | -2.66 |
| MutationAssessor | high | medium | high |
| MutationAssessor score | 3.9 | 3.325 | 4.94 |
| EFIN SP | Damaging | Damaging | Damaging |
| EFIN SP score | 0.374 | 0.572 | 0.324 |
| EFIN HD | Neutral | Neutral | Neutral |
| EFIN HD score | 0.446 | 0.566 | 0.436 |
| MLC | Neutral | Neutral | Neutral |
| MLC score | 0.08123604 | 0.08123604 | 0.08123604 |
| PANTHER score | . | . | . |
| PhD-SNP score | . | . | . |
| APOGEE1 | Pathogenic | Neutral | Pathogenic |
| APOGEE1 score | 0.62 | 0.38 | 0.68 |
| APOGEE2 | VUS- | Likely-benign | VUS- |
| APOGEE2 score | 0.312980337655308 | 0.171286716584177 | 0.345620858867556 |
| CAROL | deleterious | deleterious | deleterious |
| CAROL score | 1 | 1 | 1 |
| Condel | neutral | neutral | neutral |
| Condel score | 0.04 | 0.05 | 0.01 |
| COVEC WMV | deleterious | deleterious | deleterious |
| COVEC WMV score | 1 | 1 | 5 |
| MtoolBox | deleterious | deleterious | deleterious |
| MtoolBox DS | 0.82 | 0.8 | 0.8 |
| DEOGEN2 | Tolerated | Tolerated | Tolerated |
| DEOGEN2 score | 0.091642 | 0.034709 | 0.076939 |
| DEOGEN2 converted rankscore | 0.38837 | 0.23430 | 0.35537 |
| Meta-SNP | . | . | . |
| Meta-SNP score | . | . | . |
| PolyPhen2 transf | low impact | low impact | low impact |
| PolyPhen2 transf score | -3.6 | -2.65 | -2.65 |
| SIFT_transf | medium impact | medium impact | low impact |
| SIFT transf score | -0.31 | -0.28 | -1.4 |
| MutationAssessor transf | medium impact | medium impact | medium impact |
| MutationAssessor transf score | 1.34 | 0.8 | 1.23 |
| CHASM | Neutral | Neutral | Neutral |
| CHASM pvalue | 0.75 | 0.73 | 0.76 |
| CHASM FDR | 0.9 | 0.9 | 0.9 |
| ClinVar id | . | . | . |
| ClinVar Allele id | . | . | . |
| ClinVar CLNDISDB | . | . | . |
| ClinVar CLNDN | . | . | . |
| ClinVar CLNSIG | . | . | . |
| MITOMAP Disease Clinical info | . | . | . |
| MITOMAP Disease Status | . | . | . |
| MITOMAP Disease Hom/Het | ./. | ./. | ./. |
| MITOMAP General GenBank Freq | 0.0% | . | . |
| MITOMAP General GenBank Seqs | 0 | . | . |
| MITOMAP General Curated refs | . | . | . |
| MITOMAP Variant Class | polymorphism | . | . |
| gnomAD 3.1 AN | 56432.0 | 56434.0 | . |
| gnomAD 3.1 AC Homo | 0.0 | 1.0 | . |
| gnomAD 3.1 AF Hom | 0.0 | 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 | npg | PASS | . |
| HelixMTdb AC Hom | 1.0 | . | . |
| HelixMTdb AF Hom | 5.1024836e-06 | . | . |
| HelixMTdb AC Het | 2.0 | . | . |
| HelixMTdb AF Het | 1.0204967e-05 | . | . |
| HelixMTdb mean ARF | 0.35905 | . | . |
| HelixMTdb max ARF | 0.55738 | . | . |
| ToMMo 54KJPN AC | 0 | . | . |
| ToMMo 54KJPN AF | 0 | . | . |
| ToMMo 54KJPN AN | 54302 | . | . |
| COSMIC 90 | . | . | . |
| dbSNP 156 id | rs879233310 | . | . |
