| ~ | 12706 (T/C) | 12706 (T/A) | 12706 (T/G) |
|---|---|---|---|
| ~ | 12706 (Ttc/Ctc) | 12706 (Ttc/Atc) | 12706 (Ttc/Gtc) |
| Chr | chrM | chrM | chrM |
| Start | 12706 | 12706 | 12706 |
| End | 12706 | 12706 | 12706 |
| Ref | T | T | T |
| Alt | C | A | G |
| MitImpact id | MI.20030 | MI.20032 | MI.20031 |
| Gene symbol | MT-ND5 | MT-ND5 | MT-ND5 |
| Respiratory Chain complex | I | I | I |
| Ensembl gene id | ENSG00000198786 | ENSG00000198786 | ENSG00000198786 |
| Ensembl protein id | ENSP00000354813 | ENSP00000354813 | ENSP00000354813 |
| Ensembl transcript id | ENST00000361567 | ENST00000361567 | ENST00000361567 |
| Uniprot name | NU5M_HUMAN | NU5M_HUMAN | NU5M_HUMAN |
| Uniprot id | P03915 | P03915 | P03915 |
| Ncbi gene id | 4540 | 4540 | 4540 |
| Ncbi protein id | YP_003024036.1 | YP_003024036.1 | YP_003024036.1 |
| Gene position | 370 | 370 | 370 |
| AA position | 124 | 124 | 124 |
| AA ref | F | F | F |
| AA alt | L | I | V |
| Codon substitution | Ttc/Ctc | Ttc/Atc | Ttc/Gtc |
| PhyloP 100V | 5.65586 | 5.65586 | 5.65586 |
| PhastCons 100V | 1 | 1 | 1 |
| PolyPhen2 | probably_damaging | probably_damaging | probably_damaging |
| PolyPhen2 score | 1 | 1 | 1 |
| SIFT | neutral | neutral | neutral |
| SIFT score | 1.0 | 0.56 | 0.61 |
| SIFT4G | Damaging | Damaging | Damaging |
| SIFT4G score | 0 | 0 | 0 |
| FatHmm | neutral | deleterious | deleterious |
| FatHmm score | -2.08 | -3.75 | -3.6 |
| FatHmmW | neutral | neutral | neutral |
| FatHmmW score | 3.25 | 3.13 | 3.14 |
| PROVEAN | deleterious | deleterious | deleterious |
| PROVEAN score | -5.92 | -5.92 | -6.9 |
| MutationAssessor | high impact | high impact | high impact |
| MutationAssessor score | 5 | 5 | 5 |
| EFIN SP | damaging | damaging | damaging |
| EFIN SP score | 0.07 | 0.29 | 0.21 |
| EFIN HD | neutral | neutral | neutral |
| EFIN HD score | 0.5 | 0.58 | 0.43 |
| CADD | deleterious | deleterious | deleterious |
| CADD score | 3.92 | 4.25 | 3.93 |
| CADD phred | 23.5 | 23.9 | 23.5 |
| VEST pvalue | 0.35 | 0.19 | 0.28 |
| VEST FDR | 0.5 | 0.45 | 0.45 |
| PANTHER | disease | disease | disease |
| PANTHER score | 0.64 | 0.78 | 0.68 |
| PhD-SNP | disease | disease | disease |
| PhD-SNP score | 0.86 | 0.87 | 0.89 |
| SNAP | disease | disease | disease |
| SNAP score | 0.66 | 0.71 | 0.72 |
| Meta-SNP | disease | disease | disease |
| Meta-SNP score | 0.72 | 0.75 | 0.77 |
| Meta-SNP RI | 4 | 5 | 5 |
| CAROL | deleterious | deleterious | deleterious |
| CAROL score | 0.99 | 1.0 | 1.0 |
| Condel | deleterious | neutral | neutral |
| Condel score | 0.5 | 0.28 | 0.31 |
| COVEC WMV | deleterious | deleterious | deleterious |
| COVEC WMV score | 2 | 2 | 2 |
| MtoolBox | deleterious | deleterious | deleterious |
| MtoolBox DS | 0.78 | 0.82 | 0.82 |
| PolyPhen2 transf | low impact | low impact | low impact |
| PolyPhen2 transf score | -3.6 | -3.6 | -3.6 |
| SIFT_transf | high impact | medium impact | medium impact |
| SIFT transf score | 1.89 | 0.29 | 0.34 |
| MutationAssessor transf | high impact | high impact | high impact |
| MutationAssessor transf score | 3.36 | 3.36 | 3.36 |
| CHASM pvalue | 0.56 | 0.56 | 0.63 |
| CHASM FDR | 0.8 | 0.8 | 0.8 |
| APOGEE1 | Pathogenic | Pathogenic | Pathogenic |
| APOGEE1 score | 0.9 | 0.87 | 0.87 |
| APOGEE2 | Likely-pathogenic | Likely-pathogenic | Likely-pathogenic |
| APOGEE2 score | 0.899085861129664 | 0.813430831797395 | 0.835390380090944 |
| SNPDryad score | 0.91 | 0.95 | 0.94 |
| MutationTaster | disease_causing_automatic | polymorphism | polymorphism |
| MutationTaster score | 0.02 | 0.98 | 0.95 |
| DEOGEN2 score | 0.27 | 0.3 | 0.3 |
| Mitoclass.1 | damaging | damaging | damaging |
| dbSNP 155 id | . | . | . |
| ClinVar July2022 Variation id | . | . | . |
| ClinVar July2022 CLNSIG | . | . | . |
| ClinVar July2022 CLNDN | . | . | . |
| ClinVar July2022 CLNDISDB | . | . | . |
| COSMIC 90 | . | . | . |
| MITOMAP Allele | T12706C | . | . |
| MITOMAP Disease Het/Hom | -/+ | . | . |
| MITOMAP Disease Clinical info | Leigh Disease | . | . |
| MITOMAP Disease Status | Cfrm [LP] | . | . |
| MITOMAP Disease GenBank Freq | 0.000%(0.000%) | . | . |
| MITOMAP Disease GenBank Seqs | 0 (0) | . | . |
| MITOMAP Disease GenBank Curated refs | 13 | . | . |
| MITOMAP General GenBank Freq | . | . | . |
| MITOMAP General GenBank Seqs | . | . | . |
| MITOMAP General Curated refs | . | . | . |
| gnomAD 3.1 filter | . | . | . |
| gnomAD 3.1 AC Homo | . | . | . |
| gnomAD 3.1 AC Het | . | . | . |
| gnomAD 3.1 AF Hom | . | . | . |
| gnomAD 3.1 AF Het | . | . | . |
| gnomAD 3.1 AN | . | . | . |
| HelixMTdb AC Hom | 0.0 | . | . |
| HelixMTdb AF Hom | 0.0 | . | . |
| HelixMTdb AC Het | 1.0 | . | . |
| HelixMTdb AF Het | 5.1024836e-06 | . | . |
| HelixMTdb mean ARF | 0.093023 | . | . | HelixMTdb max ARF | 0.093023 | . | . |
| EVmutation | . | . | . |
| 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 | . | . | . |
