C207Y (p.Cys207Tyr) variant of TH (Tyrosine 3-monooxygenase)
C207Y (p.Cys207Tyr) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ARSEGS. The record also includes published literature and structural context.
C207Y (p.Cys207Tyr) variant details
- p.Cys207Tyr
- UniProt VAR 072863
- Pathogenic
- in ARSEGS
- Missense
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Structural context available
- Cited in: Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. (PMID 20430833)
- Cited in: Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in… (PMID 24753243)