Y49C (p.Tyr49Cys) variant of ETFDH (Q16134)
Y49C (p.Tyr49Cys) in ETFDH (Q16134) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in GA2C. The record also includes published literature and structural context.
Y49C (p.Tyr49Cys) variant details
- p.Tyr49Cys
- UniProt VAR 075439
- Uncertain significance
- in GA2C
- Missense
- EBI: Variant of uncertain significance (in GA2C)
- UniProt: Uncertain significance (in GA2C)
- Structural context available
- Cited in: Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase… (PMID 12359134)
- Cited in: Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation… (PMID 12815589)