~ | 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 | . | . | . |