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| ~ | 9035 (T/C) | 9035 (T/A) | 9035 (T/G) |
|---|---|---|---|
| ~ | 9035 (cTc/cCc) | 9035 (cTc/cAc) | 9035 (cTc/cGc) |
| Chr | chrM | chrM | chrM |
| Start | 9035 | 9035 | 9035 |
| End | 9035 | 9035 | 9035 |
| Ref | T | T | T |
| Alt | C | A | G |
| MitImpact id | MI.1085 | MI.1083 | MI.1084 |
| 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 | 509 | 509 | 509 |
| AA position | 170 | 170 | 170 |
| AA ref | L | L | L |
| AA alt | P | H | R |
| Codon substitution | cTc/cCc | cTc/cAc | cTc/cGc |
| PhyloP 100V | -1.72 | -1.72 | -1.72 |
| PhastCons 100V | 0 | 0 | 0 |
| 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 | -5.85 | -5.89 | -5.31 |
| FatHmmW | neutral | neutral | neutral |
| FatHmmW score | 3.81 | 3.81 | 3.81 |
| PROVEAN | deleterious | deleterious | deleterious |
| PROVEAN score | -6.22 | -6.17 | -5.29 |
| MutationAssessor | high impact | high impact | high impact |
| MutationAssessor score | 4.45 | 4.45 | 4.45 |
| EFIN SP | damaging | damaging | damaging |
| EFIN SP score | 0.28 | 0.47 | 0.37 |
| EFIN HD | damaging | damaging | damaging |
| EFIN HD score | 0.15 | 0.14 | 0.13 |
| CADD | deleterious | deleterious | deleterious |
| CADD score | 4.03 | 4.32 | 4.25 |
| CADD phred | 23.7 | 24 | 23.9 |
| VEST pvalue | 0.17 | 0.16 | 0.16 |
| VEST FDR | 0.65 | 0.65 | 0.65 |
| PANTHER | disease | disease | disease |
| PANTHER score | 0.92 | 0.92 | 0.89 |
| PhD-SNP | disease | disease | disease |
| PhD-SNP score | 0.82 | 0.82 | 0.88 |
| SNAP | disease | disease | disease |
| SNAP score | 0.74 | 0.71 | 0.74 |
| Meta-SNP | disease | disease | disease |
| Meta-SNP score | 0.83 | 0.82 | 0.82 |
| Meta-SNP RI | 7 | 6 | 6 |
| 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 | 0.87 | 0.9 |
| 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 | 2.72 | 2.72 | 2.72 |
| CHASM pvalue | 0.69 | 0.52 | 0.51 |
| CHASM FDR | 0.9 | 0.9 | 0.9 |
| APOGEE | Pathogenic | Likely-pathogenic | Pathogenic |
| APOGEE score | 0.9774592772708436 | 0.8745249742300166 | 0.946570512202185 |
| SNPDryad score | 1 | 0.97 | 0.99 |
| MutationTaster | disease_causing | polymorphism | polymorphism |
| MutationTaster score | 0.99 | 1 | 1 |
| DEOGEN2 score | 0.32 | 0.32 | 0.31 |
| Mitoclass.1 | damaging | damaging | damaging |
| dbSNP 155 id | rs1603222000 | . | . |
| ClinVar October2021 Variation id | 690280 | . | . |
| ClinVar October2021 CLNSIG | Likely_pathogenic | . | . |
| ClinVar October2021 CLNDN | See_cases|Leber_optic_atrophy|Progressive_cerebellar_ataxia|Leigh_syndrome|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|Human_Phenotype_Ontology:HP:0001329,Human_Phenotype_Ontology:HP:0002073,Human_Phenotype_Ontology:HP:0002496,Human_Phenotype_Ontology:HP:0007331,MedGen:C0393525|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380 | . | . |
| COSMIC 90 | . | . | . |
| MITOMAP Allele | T9035C | . | . |
| MITOMAP Disease Het/Hom | +/+ | . | . |
| MITOMAP Disease Clinical info | Ataxia syndromes | . | . |
| MITOMAP Disease Status | Cfrm | . | . |
| MITOMAP Disease GenBank Freq | 0.000% | . | . |
| MITOMAP Disease GenBank Seqs | 0 (0) | . | . |
| MITOMAP Disease GenBank Curated refs | 5 | . | . |
| MITOMAP General GenBank Freq | . | . | . |
| MITOMAP General GenBank Seqs | . | . | . |
| MITOMAP General Curated refs | . | . | . |
| gnomAD 3.1 filter | PASS | . | . |
| gnomAD 3.1 AC Homo | 0 | . | . |
| gnomAD 3.1 AC Het | 2 | . | . |
| gnomAD 3.1 AF Hom | 0 | . | . |
| gnomAD 3.1 AF Het | 3.5446537e-05 | . | . |
| gnomAD 3.1 AN | 56423 | . | . |
| HelixMTdb AC Hom | 0 | . | . |
| HelixMTdb AF Hom | 0 | . | . |
| HelixMTdb AC Het | 8 | . | . |
| HelixMTdb AF Het | 4.081987e-05 | . | . |
| HelixMTdb mean ARF | 0.25609 | . | . | HelixMTdb max ARF | 0.5098 | . | . |
| EVmutation | MT-ATP6_170L|199L:0.292524;196L:0.189155;221Y:0.156577;206V:0.126652;173L:0.102339;201I:0.090527;200T:0.085895;174I:0.070758;203E:0.064958 | MT-ATP6_170L|199L:0.292524;196L:0.189155;221Y:0.156577;206V:0.126652;173L:0.102339;201I:0.090527;200T:0.085895;174I:0.070758;203E:0.064958 | MT-ATP6_170L|199L:0.292524;196L:0.189155;221Y:0.156577;206V:0.126652;173L:0.102339;201I:0.090527;200T:0.085895;174I:0.070758;203E:0.064958 |
| Site A InterP | ATP6_170 | ATP6_170 | ATP6_170 |
| Site B InterP | ATP8_51 | ATP8_51 | ATP8_51 |
| Covariation Score InterP | mfDCA_34.47 | mfDCA_34.47 | mfDCA_34.47 |
| 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 | . | . | . |
