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| ~ | 8969 (G/A) | 8969 (G/C) | 8969 (G/T) |
|---|---|---|---|
| ~ | 8969 (aGc/aAc) | 8969 (aGc/aCc) | 8969 (aGc/aTc) |
| Chr | chrM | chrM | chrM |
| Start | 8969 | 8969 | 8969 |
| End | 8969 | 8969 | 8969 |
| Ref | G | G | G |
| Alt | A | C | T |
| MitImpact id | MI.946 | MI.945 | MI.947 |
| 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 | 443 | 443 | 443 |
| AA position | 148 | 148 | 148 |
| AA ref | S | S | S |
| AA alt | N | T | I |
| Codon substitution | aGc/aAc | aGc/aCc | aGc/aTc |
| PhyloP 100V | 8.69 | 8.69 | 8.69 |
| PhastCons 100V | 1 | 1 | 1 |
| PolyPhen2 | probably_damaging | probably_damaging | probably_damaging |
| PolyPhen2 score | 0.98 | 0.98 | 0.99 |
| SIFT | deleterious | deleterious | deleterious |
| SIFT score | 0 | 0 | 0 |
| FatHmm | neutral | neutral | deleterious |
| FatHmm score | -2.96 | -2.98 | -6.11 |
| FatHmmW | neutral | neutral | neutral |
| FatHmmW score | 3.46 | 3.46 | 3.4 |
| PROVEAN | deleterious | deleterious | deleterious |
| PROVEAN score | -2.76 | -2.72 | -5.48 |
| MutationAssessor | high impact | high impact | high impact |
| MutationAssessor score | 4.59 | 4.04 | 4.59 |
| EFIN SP | damaging | damaging | damaging |
| EFIN SP score | 0.47 | 0.51 | 0.49 |
| EFIN HD | damaging | damaging | damaging |
| EFIN HD score | 0.07 | 0.08 | 0.06 |
| CADD | deleterious | deleterious | deleterious |
| CADD score | 3.63 | 3.46 | 4.16 |
| CADD phred | 23.2 | 23 | 23.8 |
| VEST pvalue | 0.45 | 0.22 | 0.2 |
| VEST FDR | 0.65 | 0.65 | 0.65 |
| PANTHER | disease | disease | disease |
| PANTHER score | 0.8 | 0.81 | 0.92 |
| PhD-SNP | disease | disease | disease |
| PhD-SNP score | 0.71 | 0.65 | 0.9 |
| SNAP | disease | disease | disease |
| SNAP score | 0.71 | 0.7 | 0.7 |
| Meta-SNP | disease | disease | disease |
| Meta-SNP score | 0.73 | 0.71 | 0.79 |
| Meta-SNP RI | 5 | 4 | 6 |
| CAROL | deleterious | deleterious | deleterious |
| CAROL score | 1 | 1 | 1 |
| Condel | neutral | neutral | neutral |
| Condel score | 0.01 | 0.01 | 0.01 |
| COVEC WMV | deleterious | deleterious | deleterious |
| COVEC WMV score | 6 | 6 | 6 |
| MtoolBox | deleterious | deleterious | deleterious |
| MtoolBox DS | 0.81 | 0.82 | 0.86 |
| PolyPhen2 transf | low impact | low impact | low impact |
| PolyPhen2 transf score | -2.36 | -2.36 | -2.65 |
| 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 | 2.36 | 2.84 |
| CHASM pvalue | 0.44 | 0.71 | 0.68 |
| CHASM FDR | 0.9 | 0.9 | 0.9 |
| APOGEE | Likely-pathogenic | VUS | Likely-pathogenic |
| APOGEE score | 0.8375530282177244 | 0.6745219632910403 | 0.7816044189002936 |
| SNPDryad score | 0.88 | 0.67 | 1 |
| MutationTaster | disease_causing_automatic | disease_causing | disease_causing |
| MutationTaster score | 1 | 1 | 1 |
| DEOGEN2 score | 0.33 | 0.22 | 0.42 |
| Mitoclass.1 | damaging | damaging | damaging |
| dbSNP 155 id | rs794726857 | rs794726857 | . |
| ClinVar October2021 Variation id | 191364 | . | . |
| ClinVar October2021 CLNSIG | Likely_pathogenic | . | . |
| ClinVar October2021 CLNDN | Leber_optic_atrophy|Myopathy,_lactic_acidosis,_and_sideroblastic_anemia_3|Juvenile_myopathy,_encephalopathy,_lactic_acidosis_AND_stroke|Mitochondrial_disease | . | . |
| ClinVar October2021 CLNDISDB | Human_Phenotype_Ontology:HP:0001086,Human_Phenotype_Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED_CT:58610003|MONDO:MONDO:0010782,MedGen:C4225415,OMIM:500011|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:ORPHA550,SNOMED_CT:39925003|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380 | . | . |
| COSMIC 90 | . | . | . |
| MITOMAP Allele | G8969A | . | . |
| MITOMAP Disease Het/Hom | -/+ | . | . |
| MITOMAP Disease Clinical info | Mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) / IgG nephropathy | . | . |
| MITOMAP Disease Status | Cfrm | . | . |
| MITOMAP Disease GenBank Freq | 0.000% | . | . |
| MITOMAP Disease GenBank Seqs | 1 (0) | . | . |
| MITOMAP Disease GenBank Curated refs | 5 | . | . |
| MITOMAP General GenBank Freq | . | 0.000% | . |
| MITOMAP General GenBank Seqs | . | 0 | . |
| MITOMAP General Curated refs | . | 1 | . |
| gnomAD 3.1 filter | PASS | PASS | . |
| gnomAD 3.1 AC Homo | 0 | 3 | . |
| gnomAD 3.1 AC Het | 4 | 1 | . |
| gnomAD 3.1 AF Hom | 0 | 5.3160384e-05 | . |
| gnomAD 3.1 AF Het | 7.0891816e-05 | 1.772013e-05 | . |
| gnomAD 3.1 AN | 56424 | 56433 | . |
| HelixMTdb AC Hom | 0 | 8 | . |
| HelixMTdb AF Hom | 0 | 4.081987e-05 | . |
| HelixMTdb AC Het | 9 | 2 | . |
| HelixMTdb AF Het | 4.592235e-05 | 1.020497e-05 | . |
| HelixMTdb mean ARF | 0.13062 | 0.37364 | . | HelixMTdb max ARF | 0.32634 | 0.52688 | . |
| EVmutation | MT-ATP6_148S|151I:0.202352;152Q:0.15972;166A:0.143987;199L:0.129953;203E:0.118282;149L:0.107154;206V:0.084979;167G:0.074546;157A:0.07425;155A:0.074111;200T:0.071113 | MT-ATP6_148S|151I:0.202352;152Q:0.15972;166A:0.143987;199L:0.129953;203E:0.118282;149L:0.107154;206V:0.084979;167G:0.074546;157A:0.07425;155A:0.074111;200T:0.071113 | MT-ATP6_148S|151I:0.202352;152Q:0.15972;166A:0.143987;199L:0.129953;203E:0.118282;149L:0.107154;206V:0.084979;167G:0.074546;157A:0.07425;155A:0.074111;200T:0.071113 |
| Site A InterP | . | . | . |
| Site B InterP | . | . | . |
| Covariation Score InterP | . | . | . |
| Site A IntraP | . | . | . |
| Site B IntraP | . | . | . |
| Covariation Score IntraP | . | . | . |
| CPD AA ref | . | . | . |
| CPD AA alt | . | . | . |
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| CPD Frequency | . | . | . |
| CPD Species name | . | . | . |
| CPD RefSeq Protein ID | . | . | . |
| CPD Ncbi Taxon id | . | . | . |
| DDG intra | . | . | . |
| DDG intra interface | . | . | . |
| DDG inter | . | . | . |
