I394T (p.Ile394Thr) variant of TH (Tyrosine 3-monooxygenase)
I394T (p.Ile394Thr) 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.
I394T (p.Ile394Thr) variant details
- p.Ile394Thr
- UniProt VAR 072879
- 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: Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. (PMID 20056467)
- Cited in: Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. (PMID 20430833)