P118R (p.Pro118Arg) variant of SLC35A2 (UDP-galactose translocator)
P118R (p.Pro118Arg) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CDG2M. The record also includes published literature and structural context.
P118R (p.Pro118Arg) variant details
- p.Pro118Arg
- UniProt VAR 087474
- Pathogenic
- in CDG2M
- Missense
- EBI: Pathogenic (in CDG2M)
- UniProt: Pathogenic (in CDG2M)
- Structural context available
- Cited in: SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported… (PMID 30817854)
- Cited in: Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. (PMID 23561849)