R33P (p.Arg33Pro) variant of GALT (P07902)
R33P (p.Arg33Pro) in GALT (P07902) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in GALAC1. The record also includes published literature and structural context.
R33P (p.Arg33Pro) variant details
- p.Arg33Pro
- UniProt VAR 072793
- Pathogenic
- in GALAC1
- Missense
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Structural context available
- Cited in: Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and… (PMID 25592817)
- Cited in: Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with… (PMID 10220154)