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| ~ | 14487 (T/C) | 14487 (T/A) | 14487 (T/G) |
|---|---|---|---|
| ~ | 14487 (Atg/Gtg) | 14487 (Atg/Ttg) | 14487 (Atg/Ctg) |
| Chr | chrM | chrM | chrM |
| Start | 14487 | 14487 | 14487 |
| End | 14487 | 14487 | 14487 |
| Ref | T | T | T |
| Alt | C | A | G |
| MitImpact id | MI.23799 | MI.23797 | MI.23798 |
| Gene symbol | MT-ND6 | MT-ND6 | MT-ND6 |
| Respiratory Chain complex | I | I | I |
| Ensembl gene id | ENSG00000198695 | ENSG00000198695 | ENSG00000198695 |
| Ensembl protein id | ENSP00000354665 | ENSP00000354665 | ENSP00000354665 |
| Ensembl transcript id | ENST00000361681 | ENST00000361681 | ENST00000361681 |
| Uniprot name | NU6M_HUMAN | NU6M_HUMAN | NU6M_HUMAN |
| Uniprot id | P03923 | P03923 | P03923 |
| Ncbi gene id | 4541 | 4541 | 4541 |
| Ncbi protein id | YP_003024037.1 | YP_003024037.1 | YP_003024037.1 |
| Gene position | 187 | 187 | 187 |
| AA position | 63 | 63 | 63 |
| AA ref | M | M | M |
| AA alt | V | L | L |
| Codon substitution | Atg/Gtg | Atg/Ttg | Atg/Ctg |
| PhyloP 100V | 8.21 | 8.21 | 8.21 |
| PhastCons 100V | 1 | 1 | 1 |
| PolyPhen2 | probably_damaging | probably_damaging | probably_damaging |
| PolyPhen2 score | 0.99 | 0.98 | 0.98 |
| SIFT | neutral | neutral | neutral |
| SIFT score | 0.42 | 0.57 | 0.57 |
| FatHmm | deleterious | neutral | neutral |
| FatHmm score | -3.62 | -2.47 | -2.47 |
| FatHmmW | neutral | neutral | neutral |
| FatHmmW score | 2.39 | 2.36 | 2.36 |
| PROVEAN | deleterious | deleterious | deleterious |
| PROVEAN score | -3.98 | -2.99 | -2.99 |
| MutationAssessor | high impact | high impact | high impact |
| MutationAssessor score | 4.01 | 4.01 | 4.01 |
| EFIN SP | damaging | damaging | damaging |
| EFIN SP score | 0.28 | 0.44 | 0.44 |
| EFIN HD | damaging | damaging | damaging |
| EFIN HD score | 0.04 | 0.06 | 0.06 |
| CADD | neutral | neutral | neutral |
| CADD score | 0.66 | 1.79 | 1.68 |
| CADD phred | 8.55 | 14.94 | 14.29 |
| VEST pvalue | 0.25 | 0.19 | 0.19 |
| VEST FDR | 0.45 | 0.45 | 0.45 |
| PANTHER | disease | neutral | neutral |
| PANTHER score | 0.52 | 0.34 | 0.34 |
| PhD-SNP | disease | disease | disease |
| PhD-SNP score | 0.96 | 0.95 | 0.95 |
| SNAP | disease | disease | disease |
| SNAP score | 0.79 | 0.75 | 0.75 |
| Meta-SNP | disease | disease | disease |
| Meta-SNP score | 0.88 | 0.87 | 0.87 |
| Meta-SNP RI | 8 | 7 | 7 |
| CAROL | deleterious | neutral | neutral |
| CAROL score | 0.99 | 0.98 | 0.98 |
| Condel | neutral | neutral | neutral |
| Condel score | 0.22 | 0.3 | 0.3 |
| COVEC WMV | deleterious | deleterious | deleterious |
| COVEC WMV score | 2 | 2 | 2 |
| MtoolBox | deleterious | deleterious | deleterious |
| MtoolBox DS | 0.87 | 0.84 | 0.84 |
| PolyPhen2 transf | low impact | low impact | low impact |
| PolyPhen2 transf score | -2.63 | -2.35 | -2.35 |
| SIFT_transf | medium impact | medium impact | medium impact |
| SIFT transf score | 0.13 | 0.27 | 0.27 |
| MutationAssessor transf | high impact | high impact | high impact |
| MutationAssessor transf score | 2.22 | 2.22 | 2.22 |
| CHASM pvalue | 0.48 | 0.45 | 0.45 |
| CHASM FDR | 0.8 | 0.8 | 0.8 |
| APOGEE | Pathogenic | Likely-pathogenic | Likely-pathogenic |
| APOGEE score | 0.94537722588064 | 0.7734523809093488 | 0.7734523809093488 |
| SNPDryad score | 0.93 | 0.97 | 0.97 |
| MutationTaster | . | . | . |
| MutationTaster score | . | . | . |
| DEOGEN2 score | 0.85 | 0.67 | 0.67 |
| Mitoclass.1 | damaging | neutral | neutral |
| dbSNP 155 id | . | . | . |
| ClinVar October2021 Variation id | . | . | . |
| ClinVar October2021 CLNSIG | . | . | . |
| ClinVar October2021 CLNDN | . | . | . |
| ClinVar October2021 CLNDISDB | . | . | . |
| COSMIC 90 | . | . | . |
| MITOMAP Allele | T14487C | . | . |
| MITOMAP Disease Het/Hom | -/+ | . | . |
| MITOMAP Disease Clinical info | Dystonia / Leigh Disease / ataxia / ptosis / epilepsy | . | . |
| MITOMAP Disease Status | Cfrm | . | . |
| MITOMAP Disease GenBank Freq | 0.000% | . | . |
| MITOMAP Disease GenBank Seqs | 0 (0) | . | . |
| MITOMAP Disease GenBank Curated refs | 34 | . | . |
| MITOMAP General GenBank Freq | . | . | . |
| MITOMAP General GenBank Seqs | . | . | . |
| MITOMAP General Curated refs | . | . | . |
| gnomAD 3.1 filter | npg | . | . |
| gnomAD 3.1 AC Homo | 0 | . | . |
| gnomAD 3.1 AC Het | 0 | . | . |
| gnomAD 3.1 AF Hom | 0 | . | . |
| gnomAD 3.1 AF Het | 0 | . | . |
| gnomAD 3.1 AN | 56430 | . | . |
| HelixMTdb AC Hom | 0 | . | . |
| HelixMTdb AF Hom | 0 | . | . |
| HelixMTdb AC Het | 2 | . | . |
| HelixMTdb AF Het | 1.0204967e-05 | . | . |
| HelixMTdb mean ARF | 0.46437 | . | . | HelixMTdb max ARF | 0.50598 | . | . |
| EVmutation | MT-ND6_63M|69Y:0.102565 | MT-ND6_63M|69Y:0.102565 | MT-ND6_63M|69Y:0.102565 |
| 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 | . | . | . |
