news model
license
| ~ | 13051 (G/A) | 13051 (G/T) | 13051 (G/C) |
|---|---|---|---|
| ~ | 13051 (Ggc/Agc) | 13051 (Ggc/Tgc) | 13051 (Ggc/Cgc) |
| Chr | chrM | chrM | chrM |
| Start | 13051 | 13051 | 13051 |
| End | 13051 | 13051 | 13051 |
| Ref | G | G | G |
| Alt | A | T | C |
| MitImpact id | MI.20773 | MI.20774 | MI.20775 |
| 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 | 715 | 715 | 715 |
| AA position | 239 | 239 | 239 |
| AA ref | G | G | G |
| AA alt | S | C | R |
| Codon substitution | Ggc/Agc | Ggc/Tgc | Ggc/Cgc |
| PhyloP 100V | 1.33 | 1.33 | 1.33 |
| PhastCons 100V | 1 | 1 | 1 |
| PolyPhen2 | probably_damaging | probably_damaging | probably_damaging |
| PolyPhen2 score | 1 | 1 | 1 |
| SIFT | neutral | neutral | neutral |
| SIFT score | 0.42 | 0.18 | 0.35 |
| FatHmm | deleterious | deleterious | deleterious |
| FatHmm score | -3.07 | -6.79 | -4.05 |
| FatHmmW | neutral | neutral | neutral |
| FatHmmW score | 4.44 | 4.32 | 4.38 |
| PROVEAN | deleterious | deleterious | deleterious |
| PROVEAN score | -5.35 | -8.03 | -7.13 |
| MutationAssessor | high impact | high impact | high impact |
| MutationAssessor score | 4.2 | 4.89 | 4.89 |
| EFIN SP | damaging | damaging | damaging |
| EFIN SP score | 0.38 | 0.29 | 0.35 |
| EFIN HD | damaging | damaging | damaging |
| EFIN HD score | 0.03 | 0.02 | 0.02 |
| CADD | deleterious | deleterious | deleterious |
| CADD score | 4.23 | 4.1 | 3.95 |
| CADD phred | 23.9 | 23.7 | 23.6 |
| VEST pvalue | 0.47 | 0.37 | 0.5 |
| VEST FDR | 0.55 | 0.5 | 0.6 |
| PANTHER | disease | disease | disease |
| PANTHER score | 0.78 | 0.96 | 0.87 |
| PhD-SNP | disease | disease | disease |
| PhD-SNP score | 0.66 | 0.74 | 0.73 |
| SNAP | disease | disease | disease |
| SNAP score | 0.68 | 0.71 | 0.79 |
| Meta-SNP | disease | disease | disease |
| Meta-SNP score | 0.67 | 0.77 | 0.73 |
| Meta-SNP RI | 3 | 5 | 5 |
| CAROL | deleterious | deleterious | deleterious |
| CAROL score | 1 | 1 | 1 |
| Condel | neutral | neutral | neutral |
| Condel score | 0.21 | 0.09 | 0.18 |
| COVEC WMV | deleterious | deleterious | deleterious |
| COVEC WMV score | 2 | 2 | 2 |
| MtoolBox | deleterious | deleterious | deleterious |
| MtoolBox DS | 0.81 | 0.85 | 0.87 |
| PolyPhen2 transf | low impact | low impact | low impact |
| PolyPhen2 transf score | -3.6 | -3.6 | -3.6 |
| SIFT_transf | medium impact | medium impact | medium impact |
| SIFT transf score | 0.16 | -0.13 | 0.08 |
| MutationAssessor transf | high impact | high impact | high impact |
| MutationAssessor transf score | 2.63 | 3.26 | 3.26 |
| CHASM pvalue | 0.73 | 0.46 | 0.8 |
| CHASM FDR | 0.85 | 0.8 | 0.85 |
| APOGEE | Pathogenic | Likely-pathogenic | Likely-pathogenic |
| APOGEE score | 0.9176908189721468 | 0.8506679528383377 | 0.8522576186173205 |
| SNPDryad score | 1 | 0.97 | 1 |
| MutationTaster | disease_causing | disease_causing | disease_causing |
| MutationTaster score | 1 | 1 | 1 |
| DEOGEN2 score | 0.18 | 0.42 | 0.39 |
| Mitoclass.1 | damaging | damaging | damaging |
| dbSNP 155 id | . | . | . |
| ClinVar October2021 Variation id | . | . | . |
| ClinVar October2021 CLNSIG | . | . | . |
| ClinVar October2021 CLNDN | . | . | . |
| ClinVar October2021 CLNDISDB | . | . | . |
| COSMIC 90 | . | . | . |
| MITOMAP Allele | G13051A | . | . |
| MITOMAP Disease Het/Hom | +/- | . | . |
| MITOMAP Disease Clinical info | LHON | . | . |
| MITOMAP Disease Status | Cfrm | . | . |
| MITOMAP Disease GenBank Freq | 0.000% | . | . |
| MITOMAP Disease GenBank Seqs | 0 (0) | . | . |
| MITOMAP Disease GenBank Curated refs | 4 | . | . |
| 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 | 56433 | . | . |
| HelixMTdb AC Hom | 0 | . | . |
| HelixMTdb AF Hom | 0 | . | . |
| HelixMTdb AC Het | 3 | . | . |
| HelixMTdb AF Het | 1.530745e-05 | . | . |
| HelixMTdb mean ARF | 0.16239 | . | . | HelixMTdb max ARF | 0.21667 | . | . |
| EVmutation | MT-ND5_239G|240P:0.163988;244S:0.149771;299K:0.136306;249S:0.117906;420S:0.113008;252M:0.100537;307S:0.085936;243V:0.083;340F:0.082262;253V:0.081357;246L:0.07159;241T:0.069718;332H:0.063667 | MT-ND5_239G|240P:0.163988;244S:0.149771;299K:0.136306;249S:0.117906;420S:0.113008;252M:0.100537;307S:0.085936;243V:0.083;340F:0.082262;253V:0.081357;246L:0.07159;241T:0.069718;332H:0.063667 | MT-ND5_239G|240P:0.163988;244S:0.149771;299K:0.136306;249S:0.117906;420S:0.113008;252M:0.100537;307S:0.085936;243V:0.083;340F:0.082262;253V:0.081357;246L:0.07159;241T:0.069718;332H:0.063667 |
| 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 | . | . | . |
