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| ~ | 14568 (C/T) | 14568 (C/G) | 14568 (C/A) |
|---|---|---|---|
| ~ | 14568 (Ggt/Agt) | 14568 (Ggt/Cgt) | 14568 (Ggt/Tgt) |
| Chr | chrM | chrM | chrM |
| Start | 14568 | 14568 | 14568 |
| End | 14568 | 14568 | 14568 |
| Ref | C | C | C |
| Alt | T | G | A |
| MitImpact id | MI.23971 | MI.23969 | MI.23970 |
| 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 | 106 | 106 | 106 |
| AA position | 36 | 36 | 36 |
| AA ref | G | G | G |
| AA alt | S | R | C |
| Codon substitution | Ggt/Agt | Ggt/Cgt | Ggt/Tgt |
| PhyloP 100V | 3.17 | 3.17 | 3.17 |
| PhastCons 100V | 0.97 | 0.97 | 0.97 |
| PolyPhen2 | probably_damaging | probably_damaging | probably_damaging |
| PolyPhen2 score | 1 | 1 | 1 |
| SIFT | neutral | neutral | neutral |
| SIFT score | 0.64 | 0.33 | 0.23 |
| FatHmm | neutral | neutral | neutral |
| FatHmm score | 2.17 | -1.39 | -0.48 |
| FatHmmW | neutral | neutral | neutral |
| FatHmmW score | 2.47 | 2.29 | 2.31 |
| PROVEAN | deleterious | deleterious | deleterious |
| PROVEAN score | -5.99 | -7.98 | -8.98 |
| MutationAssessor | low impact | high impact | medium impact |
| MutationAssessor score | 1.72 | 3.6 | 3.25 |
| EFIN SP | damaging | neutral | neutral |
| EFIN SP score | 0.27 | 0.61 | 0.67 |
| EFIN HD | damaging | damaging | damaging |
| EFIN HD score | 0.23 | 0.26 | 0.27 |
| CADD | deleterious | deleterious | deleterious |
| CADD score | 4.27 | 3.99 | 4.54 |
| CADD phred | 24 | 23.6 | 24.3 |
| VEST pvalue | 0.42 | 0.13 | 0.21 |
| VEST FDR | 0.55 | 0.4 | 0.45 |
| PANTHER | neutral | disease | disease |
| PANTHER score | 0.23 | 0.65 | 0.69 |
| PhD-SNP | disease | disease | disease |
| PhD-SNP score | 0.52 | 0.93 | 0.92 |
| SNAP | neutral | disease | disease |
| SNAP score | 0.37 | 0.78 | 0.67 |
| Meta-SNP | neutral | disease | disease |
| Meta-SNP score | 0.46 | 0.85 | 0.81 |
| Meta-SNP RI | 1 | 7 | 6 |
| CAROL | deleterious | deleterious | deleterious |
| CAROL score | 1 | 1 | 1 |
| Condel | neutral | neutral | neutral |
| Condel score | 0.32 | 0.17 | 0.12 |
| COVEC WMV | neutral | deleterious | deleterious |
| COVEC WMV score | -2 | 2 | 1 |
| MtoolBox | deleterious | deleterious | deleterious |
| MtoolBox DS | 0.73 | 0.89 | 0.88 |
| PolyPhen2 transf | low impact | low impact | low impact |
| PolyPhen2 transf score | -3.55 | -3.55 | -3.55 |
| SIFT_transf | medium impact | medium impact | medium impact |
| SIFT transf score | 0.35 | 0.04 | -0.09 |
| MutationAssessor transf | medium impact | medium impact | medium impact |
| MutationAssessor transf score | 0.3 | 1.88 | 1.58 |
| CHASM pvalue | 0.77 | 0.76 | 0.79 |
| CHASM FDR | 0.85 | 0.85 | 0.85 |
| APOGEE | Likely-pathogenic | Likely-pathogenic | VUS |
| APOGEE score | 0.8341050167976088 | 0.7596368026449405 | 0.7117214153866452 |
| SNPDryad score | 1 | 1 | 0.97 |
| MutationTaster | . | . | . |
| MutationTaster score | . | . | . |
| DEOGEN2 score | 0.53 | 0.7 | 0.57 |
| Mitoclass.1 | neutral | damaging | damaging |
| dbSNP 155 id | . | . | . |
| ClinVar October2021 Variation id | . | . | . |
| ClinVar October2021 CLNSIG | . | . | . |
| ClinVar October2021 CLNDN | . | . | . |
| ClinVar October2021 CLNDISDB | . | . | . |
| COSMIC 90 | . | . | COSM1138273 |
| MITOMAP Allele | C14568T | . | . |
| MITOMAP Disease Het/Hom | +/- | . | . |
| MITOMAP Disease Clinical info | LHON | . | . |
| MITOMAP Disease Status | Cfrm | . | . |
| MITOMAP Disease GenBank Freq | 0.000% | . | . |
| MITOMAP Disease GenBank Seqs | 6 (0) | . | . |
| MITOMAP Disease GenBank Curated refs | 11 | . | . |
| MITOMAP General GenBank Freq | . | . | 0.000% |
| MITOMAP General GenBank Seqs | . | . | 0 |
| MITOMAP General Curated refs | . | . | 1 |
| gnomAD 3.1 filter | PASS | . | npg |
| gnomAD 3.1 AC Homo | 1 | . | 0 |
| gnomAD 3.1 AC Het | 1 | . | 0 |
| gnomAD 3.1 AF Hom | 1.7719814e-05 | . | 0 |
| gnomAD 3.1 AF Het | 1.7719814e-05 | . | 0 |
| gnomAD 3.1 AN | 56434 | . | 56433 |
| HelixMTdb AC Hom | 2 | . | 0 |
| HelixMTdb AF Hom | 1.0204967e-05 | . | 0 |
| HelixMTdb AC Het | 1 | . | 1 |
| HelixMTdb AF Het | 5.1024836e-06 | . | 5.1024836e-06 |
| HelixMTdb mean ARF | 0.32326 | . | 0.14658 | HelixMTdb max ARF | 0.32326 | . | 0.14658 |
| EVmutation | MT-ND6_36G|153V:0.10776;68G:0.106159;52G:0.097427;149G:0.078428;161F:0.072288;39G:0.071381;171A:0.065204 | MT-ND6_36G|153V:0.10776;68G:0.106159;52G:0.097427;149G:0.078428;161F:0.072288;39G:0.071381;171A:0.065204 | MT-ND6_36G|153V:0.10776;68G:0.106159;52G:0.097427;149G:0.078428;161F:0.072288;39G:0.071381;171A:0.065204 |
| 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 | . | . | . |
