| ~ | 13514 (A/G) | 13514 (A/T) | 13514 (A/C) |
|---|---|---|---|
| ~ | 13514 (gAc/gGc) | 13514 (gAc/gTc) | 13514 (gAc/gCc) |
| Chr | chrM | chrM | chrM |
| Start | 13514 | 13514 | 13514 |
| End | 13514 | 13514 | 13514 |
| Ref | A | A | A |
| Alt | G | T | C |
| MitImpact id | MI.21770 | MI.21771 | MI.21772 |
| 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 | 1178 | 1178 | 1178 |
| AA position | 393 | 393 | 393 |
| AA ref | D | D | D |
| AA alt | G | V | A |
| Codon substitution | gAc/gGc | gAc/gTc | gAc/gCc |
| 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 | 0.34 | 0.51 | 0.55 |
| SIFT4G | Damaging | Damaging | Damaging |
| SIFT4G score | 0 | 0 | 0 |
| FatHmm | deleterious | neutral | neutral |
| FatHmm score | -4.16 | -2.34 | -2.56 |
| FatHmmW | neutral | neutral | neutral |
| FatHmmW score | 4.5 | 4.59 | 4.58 |
| PROVEAN | deleterious | deleterious | deleterious |
| PROVEAN score | -6.29 | -8.09 | -7.19 |
| MutationAssessor | high impact | high impact | high impact |
| MutationAssessor score | 4.24 | 4.7 | 4.14 |
| EFIN SP | damaging | damaging | damaging |
| EFIN SP score | 0.21 | 0.16 | 0.29 |
| EFIN HD | neutral | neutral | neutral |
| EFIN HD score | 0.44 | 0.36 | 0.46 |
| CADD | deleterious | deleterious | deleterious |
| CADD score | 4.01 | 3.76 | 3.66 |
| CADD phred | 23.6 | 23.3 | 23.2 |
| VEST pvalue | 0.27 | 0.23 | 0.25 |
| VEST FDR | 0.45 | 0.45 | 0.45 |
| PANTHER | disease | disease | disease |
| PANTHER score | 0.88 | 0.69 | 0.62 |
| PhD-SNP | disease | disease | disease |
| PhD-SNP score | 0.89 | 0.93 | 0.83 |
| SNAP | disease | disease | disease |
| SNAP score | 0.79 | 0.76 | 0.76 |
| Meta-SNP | disease | disease | disease |
| Meta-SNP score | 0.85 | 0.81 | 0.77 |
| Meta-SNP RI | 7 | 6 | 5 |
| CAROL | deleterious | deleterious | deleterious |
| CAROL score | 1.0 | 1.0 | 1.0 |
| Condel | neutral | neutral | neutral |
| Condel score | 0.17 | 0.26 | 0.28 |
| COVEC WMV | deleterious | deleterious | deleterious |
| COVEC WMV score | 2 | 2 | 2 |
| MtoolBox | deleterious | deleterious | deleterious |
| MtoolBox DS | 0.87 | 0.87 | 0.84 |
| 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 | 0.07 | 0.24 | 0.28 |
| MutationAssessor transf | high impact | high impact | high impact |
| MutationAssessor transf score | 2.67 | 3.09 | 2.58 |
| CHASM pvalue | 0.28 | 0.31 | 0.41 |
| CHASM FDR | 0.8 | 0.8 | 0.8 |
| APOGEE1 | Pathogenic | Pathogenic | Pathogenic |
| APOGEE1 score | 0.95 | 0.92 | 0.92 |
| APOGEE2 | Pathogenic | Likely-pathogenic | Likely-pathogenic |
| APOGEE2 score | 0.963450864386666 | 0.822177058396494 | 0.820803837305907 |
| SNPDryad score | 0.98 | 0.99 | 0.94 |
| MutationTaster | disease_causing_automatic | disease_causing | disease_causing |
| MutationTaster score | 1 | 1 | 1 |
| DEOGEN2 score | 0.28 | 0.22 | 0.28 |
| 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 | A13514G | . | . |
| MITOMAP Disease Het/Hom | -/+ | . | . |
| MITOMAP Disease Clinical info | Leigh Disease / MELAS / Ca2+ downregulation | . | . |
| MITOMAP Disease Status | Cfrm [LP] | . | . |
| MITOMAP Disease GenBank Freq | 0.000%(0.000%) | . | . |
| MITOMAP Disease GenBank Seqs | 0 (0) | . | . |
| MITOMAP Disease GenBank Curated refs | 17 | . | . |
| 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_393D|397E:0.304998;394H:0.100091;396I:0.064101 | MT-ND5_393D|397E:0.304998;394H:0.100091;396I:0.064101 | MT-ND5_393D|397E:0.304998;394H:0.100091;396I:0.064101 |
| 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 | . | . | . |
