| ~ | 13379 (A/G) | 13379 (A/T) | 13379 (A/C) |
|---|---|---|---|
| ~ | 13379 (cAc/cGc) | 13379 (cAc/cTc) | 13379 (cAc/cCc) |
| Chr | chrM | chrM | chrM |
| Start | 13379 | 13379 | 13379 |
| End | 13379 | 13379 | 13379 |
| Ref | A | A | A |
| Alt | G | T | C |
| MitImpact id | MI.21486 | MI.21485 | MI.21487 |
| 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 | 1043 | 1043 | 1043 |
| AA position | 348 | 348 | 348 |
| AA ref | H | H | H |
| AA alt | R | L | P |
| Codon substitution | cAc/cGc | cAc/cTc | cAc/cCc |
| PhyloP 100V | 8.60202 | 8.60202 | 8.60202 |
| PhastCons 100V | 1 | 1 | 1 |
| PolyPhen2 | probably_damaging | probably_damaging | probably_damaging |
| PolyPhen2 score | 1 | 1 | 1 |
| SIFT | neutral | neutral | neutral |
| SIFT score | 0.35 | 0.78 | 0.21 |
| SIFT4G | Damaging | Damaging | Damaging |
| SIFT4G score | 0 | 0 | 0.001 |
| FatHmm | neutral | neutral | deleterious |
| FatHmm score | -2.63 | -2.84 | -4.94 |
| FatHmmW | neutral | neutral | neutral |
| FatHmmW score | 4.54 | 4.55 | 4.49 |
| PROVEAN | deleterious | deleterious | deleterious |
| PROVEAN score | -7.21 | -9.91 | -9.01 |
| MutationAssessor | high impact | high impact | high impact |
| MutationAssessor score | 3.8 | 3.54 | 4.57 |
| EFIN SP | damaging | damaging | damaging |
| EFIN SP score | 0.48 | 0.35 | 0.41 |
| EFIN HD | damaging | damaging | damaging |
| EFIN HD score | 0.1 | 0.09 | 0.11 |
| CADD | deleterious | deleterious | deleterious |
| CADD score | 3.05 | 3.96 | 3.28 |
| CADD phred | 22.4 | 23.6 | 22.8 |
| VEST pvalue | 0.39 | 0.17 | 0.15 |
| VEST FDR | 0.5 | 0.45 | 0.4 |
| PANTHER | disease | disease | disease |
| PANTHER score | 0.69 | 0.68 | 0.86 |
| PhD-SNP | disease | disease | disease |
| PhD-SNP score | 0.89 | 0.92 | 0.92 |
| SNAP | disease | disease | disease |
| SNAP score | 0.82 | 0.8 | 0.87 |
| Meta-SNP | disease | disease | disease |
| Meta-SNP score | 0.82 | 0.82 | 0.85 |
| Meta-SNP RI | 6 | 6 | 7 |
| CAROL | deleterious | deleterious | deleterious |
| CAROL score | 1.0 | 1.0 | 1.0 |
| Condel | neutral | neutral | neutral |
| Condel score | 0.18 | 0.39 | 0.11 |
| COVEC WMV | deleterious | deleterious | deleterious |
| COVEC WMV score | 2 | 2 | 2 |
| MtoolBox | deleterious | deleterious | deleterious |
| MtoolBox DS | 0.87 | 0.86 | 0.9 |
| 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 | 0.08 | 0.54 | -0.09 |
| MutationAssessor transf | high impact | high impact | high impact |
| MutationAssessor transf score | 2.27 | 2.03 | 2.97 |
| CHASM pvalue | 0.54 | 0.35 | 0.28 |
| CHASM FDR | 0.8 | 0.8 | 0.8 |
| APOGEE1 | Pathogenic | Pathogenic | Pathogenic |
| APOGEE1 score | 0.56 | 0.67 | 0.8 |
| APOGEE2 | Likely-pathogenic | Likely-pathogenic | Pathogenic |
| APOGEE2 score | 0.803494086069945 | 0.838527101496156 | 0.954332812574913 |
| SNPDryad score | 0.99 | 0.97 | 0.97 |
| MutationTaster | disease_causing | disease_causing | disease_causing |
| MutationTaster score | 1 | 1 | 1 |
| DEOGEN2 score | 0.21 | 0.2 | 0.4 |
| 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 | A13379G | . | A13379C |
| MITOMAP Disease Het/Hom | +/- | . | +/- |
| MITOMAP Disease Clinical info | LHON | . | LHON |
| MITOMAP Disease Status | Cfrm [VUS*] | . | Reported [VUS] |
| MITOMAP Disease GenBank Freq | 0.000%(0.000%) | . | 0.000%(0.000%) |
| MITOMAP Disease GenBank Seqs | 0 (0) | . | 0 (0) |
| MITOMAP Disease GenBank Curated refs | 2 | . | 1 |
| 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 | . | . | . |
| HelixMTdb AF Hom | . | . | . |
| HelixMTdb AC Het | . | . | . |
| HelixMTdb AF Het | . | . | . |
| HelixMTdb mean ARF | . | . | . | HelixMTdb max ARF | . | . | . |
| EVmutation | MT-ND5_348H|349N:0.24883;350L:0.136903;369T:0.101802;391S:0.101338;351N:0.092699;366M:0.068861 | MT-ND5_348H|349N:0.24883;350L:0.136903;369T:0.101802;391S:0.101338;351N:0.092699;366M:0.068861 | MT-ND5_348H|349N:0.24883;350L:0.136903;369T:0.101802;391S:0.101338;351N:0.092699;366M:0.068861 |
| 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 | . | . | . |
