rs397514612, FARS2

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
0.800 GeneticVariation UNIPROT Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. 22833457 2012
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
0.800 GeneticVariation CLINVAR Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. 22833457 2012
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
0.800 GeneticVariation UNIPROT Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. 22499341 2012
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
0.800 CausalMutation CLINVAR
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
0.010 GeneticVariation BEFREE Here we have studied three pathogenic mutants (Tyr144Cys, Ile329Thr, and Asp391Val) associated with Alpers encephalopathy to understand how these variants affect the biophysical properties of the enzyme. 31241862 2019