~ | 12706 (T/C) | 12706 (T/G) | 12706 (T/A) |
---|---|---|---|
~ | 12706 (Ttc/Ctc) | 12706 (Ttc/Gtc) | 12706 (Ttc/Atc) |
Chr | chrM | chrM | chrM |
Start | 12706 | 12706 | 12706 |
End | 12706 | 12706 | 12706 |
Ref | T | T | T |
Alt | C | G | A |
MitImpact id | MI.20030 | MI.20031 | MI.20032 |
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 | V | I |
Codon substitution | Ttc/Ctc | Ttc/Gtc | Ttc/Atc |
PhyloP 100V | -5.55 | -5.55 | -5.55 |
PhastCons 100V | 0 | 0 | 0 |
PolyPhen2 | probably_damaging | probably_damaging | probably_damaging |
PolyPhen2 score | 1 | 1 | 1 |
SIFT | neutral | neutral | neutral |
SIFT score | 1 | 0.61 | 0.56 |
FatHmm | neutral | deleterious | deleterious |
FatHmm score | -2.08 | -3.6 | -3.75 |
FatHmmW | neutral | neutral | neutral |
FatHmmW score | 3.25 | 3.14 | 3.13 |
PROVEAN | deleterious | deleterious | deleterious |
PROVEAN score | -5.92 | -6.9 | -5.92 |
MutationAssessor | high impact | high impact | high impact |
MutationAssessor score | 5 | 5 | 5 |
EFIN SP | damaging | damaging | damaging |
EFIN SP score | 0.07 | 0.21 | 0.29 |
EFIN HD | neutral | neutral | neutral |
EFIN HD score | 0.5 | 0.43 | 0.58 |
CADD | deleterious | deleterious | deleterious |
CADD score | 3.92 | 3.93 | 4.25 |
CADD phred | 23.5 | 23.5 | 23.9 |
VEST pvalue | 0.35 | 0.28 | 0.19 |
VEST FDR | 0.5 | 0.45 | 0.45 |
PANTHER | disease | disease | disease |
PANTHER score | 0.64 | 0.68 | 0.78 |
PhD-SNP | disease | disease | disease |
PhD-SNP score | 0.86 | 0.89 | 0.87 |
SNAP | disease | disease | disease |
SNAP score | 0.66 | 0.72 | 0.71 |
Meta-SNP | disease | disease | disease |
Meta-SNP score | 0.72 | 0.77 | 0.75 |
Meta-SNP RI | 4 | 5 | 5 |
CAROL | deleterious | deleterious | deleterious |
CAROL score | 0.99 | 1 | 1 |
Condel | deleterious | neutral | neutral |
Condel score | 0.5 | 0.31 | 0.28 |
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 | 0.34 | 0.29 |
MutationAssessor transf | high impact | high impact | high impact |
MutationAssessor transf score | 3.36 | 3.36 | 3.36 |
CHASM pvalue | 0.56 | 0.63 | 0.56 |
CHASM FDR | 0.8 | 0.8 | 0.8 |
APOGEE | Likely-pathogenic | Likely-pathogenic | Likely-pathogenic |
APOGEE score | 0.8990858611296639 | 0.8353903800909437 | 0.8134308317973954 |
SNPDryad score | 0.91 | 0.94 | 0.95 |
MutationTaster | disease_causing_automatic | polymorphism | polymorphism |
MutationTaster score | 0.02 | 0.95 | 0.98 |
DEOGEN2 score | 0.27 | 0.3 | 0.3 |
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 | T12706C | . | . |
MITOMAP Disease Het/Hom | -/+ | . | . |
MITOMAP Disease Clinical info | Leigh Disease | . | . |
MITOMAP Disease Status | Cfrm | . | . |
MITOMAP Disease GenBank Freq | 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 | . | . |
HelixMTdb AF Hom | 0 | . | . |
HelixMTdb AC Het | 1 | . | . |
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 | . | . | . |