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| ~ | 9185 (T/C) | 9185 (T/G) | 9185 (T/A) |
|---|---|---|---|
| ~ | 9185 (cTc/cCc) | 9185 (cTc/cGc) | 9185 (cTc/cAc) |
| Chr | chrM | chrM | chrM |
| Start | 9185 | 9185 | 9185 |
| End | 9185 | 9185 | 9185 |
| Ref | T | T | T |
| Alt | C | G | A |
| MitImpact id | MI.1401 | MI.1402 | MI.1403 |
| 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 | 659 | 659 | 659 |
| AA position | 220 | 220 | 220 |
| AA ref | L | L | L |
| AA alt | P | R | H |
| Codon substitution | cTc/cCc | cTc/cGc | cTc/cAc |
| PhyloP 100V | 0.82 | 0.82 | 0.82 |
| PhastCons 100V | 0.48 | 0.48 | 0.48 |
| PolyPhen2 | probably_damaging | probably_damaging | probably_damaging |
| PolyPhen2 score | 1 | 1 | 1 |
| SIFT | deleterious | deleterious | deleterious |
| SIFT score | 0 | 0 | 0 |
| FatHmm | deleterious | deleterious | deleterious |
| FatHmm score | -4.18 | -3.54 | -4.12 |
| FatHmmW | neutral | neutral | neutral |
| FatHmmW score | 4.08 | 4.09 | 4.08 |
| PROVEAN | deleterious | deleterious | deleterious |
| PROVEAN score | -6.22 | -5.32 | -6.2 |
| MutationAssessor | high impact | high impact | high impact |
| MutationAssessor score | 4.3 | 4.3 | 4.3 |
| EFIN SP | damaging | damaging | damaging |
| EFIN SP score | 0.2 | 0.15 | 0.38 |
| EFIN HD | neutral | neutral | neutral |
| EFIN HD score | 0.42 | 0.34 | 0.38 |
| CADD | deleterious | deleterious | deleterious |
| CADD score | 3.99 | 4.32 | 4.22 |
| CADD phred | 23.6 | 24 | 23.9 |
| VEST pvalue | 0.2 | 0.19 | 0.22 |
| VEST FDR | 0.65 | 0.65 | 0.65 |
| PANTHER | . | . | . |
| PANTHER score | . | . | . |
| PhD-SNP | disease | disease | disease |
| PhD-SNP score | 0.67 | 0.78 | 0.7 |
| SNAP | disease | disease | disease |
| SNAP score | 0.76 | 0.77 | 0.73 |
| Meta-SNP | disease | disease | disease |
| Meta-SNP score | 0.74 | 0.75 | 0.73 |
| Meta-SNP RI | 5 | 5 | 5 |
| CAROL | deleterious | deleterious | deleterious |
| CAROL score | 1 | 1 | 1 |
| Condel | neutral | neutral | neutral |
| Condel score | 0 | 0 | 0 |
| COVEC WMV | deleterious | deleterious | deleterious |
| COVEC WMV score | 6 | 6 | 6 |
| MtoolBox | deleterious | deleterious | deleterious |
| MtoolBox DS | 0.89 | 0.9 | 0.87 |
| PolyPhen2 transf | low impact | low impact | low impact |
| PolyPhen2 transf score | -3.6 | -3.6 | -3.6 |
| 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 | 2.59 | 2.59 | 2.59 |
| CHASM pvalue | 0.48 | 0.54 | 0.58 |
| CHASM FDR | 0.9 | 0.9 | 0.9 |
| APOGEE | Likely-pathogenic | VUS | Likely-pathogenic |
| APOGEE score | 0.9045656434189292 | 0.5696993608763841 | 0.810281980867029 |
| SNPDryad score | 1 | 0.99 | 0.97 |
| MutationTaster | disease_causing_automatic | disease_causing | disease_causing |
| MutationTaster score | 1 | 1 | 1 |
| DEOGEN2 score | 0.32 | 0.31 | 0.32 |
| Mitoclass.1 | damaging | damaging | damaging |
| dbSNP 155 id | rs199476138 | rs199476138 | . |
| ClinVar October2021 Variation id | 9647 | . | . |
| ClinVar October2021 CLNSIG | Pathogenic | . | . |
| ClinVar October2021 CLNDN | Leber_optic_atrophy|Leigh_syndrome|Charcot-Marie-Tooth_disease|Mitochondrial_complex_5_(ATP_synthase)_deficiency,_mitochondrial_type_1|Mitochondrial_disease|not_provided | . | . |
| 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:0009723,MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:ORPHA166,SNOMED_CT:50548001|MONDO:MONDO:0027069,MedGen:C3275684,OMIM:500015|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN517202 | . | . |
| COSMIC 90 | . | . | . |
| MITOMAP Allele | T9185C | . | . |
| MITOMAP Disease Het/Hom | +/+ | . | . |
| MITOMAP Disease Clinical info | Leigh Disease / Ataxia syndromes / NARP-like disease / Episodic weakness and Charcot-Marie-Tooth | . | . |
| MITOMAP Disease Status | Cfrm | . | . |
| MITOMAP Disease GenBank Freq | 0.000% | . | . |
| MITOMAP Disease GenBank Seqs | 3 (0) | . | . |
| MITOMAP Disease GenBank Curated refs | 34 | . | . |
| MITOMAP General GenBank Freq | . | 0.011% | 0.002% |
| MITOMAP General GenBank Seqs | . | 6 | 1 |
| MITOMAP General Curated refs | . | 1 | 1 |
| gnomAD 3.1 filter | PASS | PASS | . |
| gnomAD 3.1 AC Homo | 0 | 2 | . |
| gnomAD 3.1 AC Het | 2 | 1 | . |
| gnomAD 3.1 AF Hom | 0 | 3.5441513e-05 | . |
| gnomAD 3.1 AF Het | 3.5447792e-05 | 1.7720757e-05 | . |
| gnomAD 3.1 AN | 56421 | 56431 | . |
| HelixMTdb AC Hom | 0 | 15 | . |
| HelixMTdb AF Hom | 0 | 7.653725e-05 | . |
| HelixMTdb AC Het | 2 | 3 | . |
| HelixMTdb AF Het | 1.0204967e-05 | 1.530745e-05 | . |
| HelixMTdb mean ARF | 0.43429 | 0.36981 | . | HelixMTdb max ARF | 0.45192 | 0.85025 | . |
| EVmutation | MT-ATP6_220L|221Y:0.112703;222L:0.073089 | MT-ATP6_220L|221Y:0.112703;222L:0.073089 | MT-ATP6_220L|221Y:0.112703;222L:0.073089 |
| 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 | . | . | . |
