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| ~ | 9155 (A/G) | 9155 (A/C) | 9155 (A/T) |
|---|---|---|---|
| ~ | 9155 (cAa/cGa) | 9155 (cAa/cCa) | 9155 (cAa/cTa) |
| Chr | chrM | chrM | chrM |
| Start | 9155 | 9155 | 9155 |
| End | 9155 | 9155 | 9155 |
| Ref | A | A | A |
| Alt | G | C | T |
| MitImpact id | MI.1340 | MI.1339 | MI.1341 |
| Gene symbol | MT-ATP6 | MT-ATP6 | MT-ATP6 |
| Respiratory Chain complex | V | V | V |
| Ensembl gene id | ENSG00000198899 | ENSG00000198899 | ENSG00000198899 |
| Ensembl protein id | ENSP00000354632 | ENSP00000354632 | ENSP00000354632 |
| Ensembl transcript id | ENST00000361899 | ENST00000361899 | ENST00000361899 |
| Uniprot name | ATP6_HUMAN | ATP6_HUMAN | ATP6_HUMAN |
| Uniprot id | P00846 | P00846 | P00846 |
| Ncbi gene id | 4508 | 4508 | 4508 |
| Ncbi protein id | YP_003024031.1 | YP_003024031.1 | YP_003024031.1 |
| Gene position | 629 | 629 | 629 |
| AA position | 210 | 210 | 210 |
| AA ref | Q | Q | Q |
| AA alt | R | P | L |
| Codon substitution | cAa/cGa | cAa/cCa | cAa/cTa |
| PhyloP 100V | 7.3 | 7.3 | 7.3 |
| PhastCons 100V | 1 | 1 | 1 |
| PolyPhen2 | probably_damaging | probably_damaging | probably_damaging |
| PolyPhen2 score | 0.97 | 0.98 | 0.97 |
| SIFT | deleterious | deleterious | deleterious |
| SIFT score | 0 | 0 | 0 |
| FatHmm | deleterious | deleterious | deleterious |
| FatHmm score | -6.4 | -8.64 | -7.61 |
| FatHmmW | neutral | neutral | neutral |
| FatHmmW score | 2.95 | 2.92 | 2.92 |
| PROVEAN | deleterious | deleterious | deleterious |
| PROVEAN score | -3.54 | -5.34 | -6.19 |
| MutationAssessor | high impact | high impact | high impact |
| MutationAssessor score | 4.59 | 4.24 | 4.59 |
| EFIN SP | damaging | damaging | neutral |
| EFIN SP score | 0.59 | 0.53 | 0.63 |
| EFIN HD | damaging | damaging | damaging |
| EFIN HD score | 0.14 | 0.15 | 0.13 |
| CADD | deleterious | deleterious | deleterious |
| CADD score | 3.54 | 3.49 | 3.94 |
| CADD phred | 23.1 | 23.1 | 23.5 |
| VEST pvalue | 0.21 | 0.14 | 0.15 |
| VEST FDR | 0.65 | 0.65 | 0.65 |
| PANTHER | . | . | . |
| PANTHER score | . | . | . |
| PhD-SNP | disease | disease | disease |
| PhD-SNP score | 0.93 | 0.93 | 0.95 |
| SNAP | disease | disease | disease |
| SNAP score | 0.81 | 0.82 | 0.74 |
| Meta-SNP | disease | disease | disease |
| Meta-SNP score | 0.84 | 0.86 | 0.85 |
| Meta-SNP RI | 7 | 7 | 7 |
| CAROL | deleterious | deleterious | deleterious |
| CAROL score | 1 | 1 | 1 |
| Condel | neutral | neutral | neutral |
| Condel score | 0.02 | 0.01 | 0.02 |
| COVEC WMV | deleterious | deleterious | deleterious |
| COVEC WMV score | 6 | 6 | 6 |
| MtoolBox | deleterious | deleterious | deleterious |
| MtoolBox DS | 0.92 | 0.94 | 0.9 |
| PolyPhen2 transf | low impact | low impact | low impact |
| PolyPhen2 transf score | -2.19 | -2.36 | -2.19 |
| SIFT_transf | low impact | low impact | low impact |
| SIFT transf score | -1.4 | -1.4 | -1.4 |
| MutationAssessor transf | high impact | high impact | high impact |
| MutationAssessor transf score | 2.84 | 2.54 | 2.84 |
| CHASM pvalue | 0.48 | 0.49 | 0.35 |
| CHASM FDR | 0.9 | 0.9 | 0.9 |
| APOGEE | Likely-pathogenic | Likely-pathogenic | Likely-pathogenic |
| APOGEE score | 0.869336052668355 | 0.8307316882661465 | 0.8218842112391219 |
| SNPDryad score | 0.91 | 0.98 | 0.99 |
| MutationTaster | disease_causing | disease_causing | disease_causing |
| MutationTaster score | 1 | 1 | 1 |
| DEOGEN2 score | 0.42 | 0.42 | 0.43 |
| Mitoclass.1 | damaging | damaging | damaging |
| dbSNP 155 id | . | . | . |
| ClinVar October2021 Variation id | . | . | . |
| ClinVar October2021 CLNSIG | . | . | . |
| ClinVar October2021 CLNDN | . | . | . |
| ClinVar October2021 CLNDISDB | . | . | . |
| COSMIC 90 | . | . | . |
| MITOMAP Allele | A9155G | . | A9155T |
| MITOMAP Disease Het/Hom | -/+ | . | +/+ |
| MITOMAP Disease Clinical info | MIDD, renal insufficiency | . | Developmental delay, intellectual disability, low citrilline |
| MITOMAP Disease Status | Cfrm | . | Reported |
| MITOMAP Disease GenBank Freq | 0.000% | . | 0.000% |
| MITOMAP Disease GenBank Seqs | 0 (0) | . | 0 (0) |
| MITOMAP Disease GenBank Curated refs | 4 | . | 1 |
| MITOMAP General GenBank Freq | . | . | 0.000% |
| MITOMAP General GenBank Seqs | . | . | 0 |
| MITOMAP General Curated refs | . | . | 1 |
| 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 | . | . | 2 |
| HelixMTdb AF Hom | . | . | 1.0204967e-05 |
| HelixMTdb AC Het | . | . | 0 |
| HelixMTdb AF Het | . | . | 0 |
| HelixMTdb mean ARF | . | . | . | HelixMTdb max ARF | . | . | . |
| EVmutation | MT-ATP6_210Q|217L:0.07151 | MT-ATP6_210Q|217L:0.07151 | MT-ATP6_210Q|217L:0.07151 |
| Site A InterP | . | . | . |
| Site B InterP | . | . | . |
| Covariation Score InterP | . | . | . |
| 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 | . | . | . |
