V71M (p.Val71Met) variant of SLC35A2 (UDP-galactose translocator)
V71M (p.Val71Met) 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.
V71M (p.Val71Met) variant details
- p.Val71Met
- UniProt VAR 087470
- 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: A three-pocket model for substrate coordination and selectivity by the nucleotide sugar transporters SLC35A1 and… (PMID 34384782)