R319P (p.Arg319Pro) variant of TH (Tyrosine 3-monooxygenase)
R319P (p.Arg319Pro) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive DOPA responsive dystonia. The record also includes published literature and structural context.
R319P (p.Arg319Pro) variant details
- p.Arg319Pro
- UniProt VAR 072872
- Likely pathogenic
- Autosomal recessive DOPA responsive dystonia
- Missense
- ClinVar: Likely pathogenic (Autosomal recessive DOPA responsive dystonia)
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Structural context available
- Cited in: Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. (PMID 19491146)
- Cited in: Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in… (PMID 24753243)