G121S (p.Gly121Ser) variant of L1CAM (Neural cell adhesion molecule L1)
G121S (p.Gly121Ser) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HYCX. The record also includes published literature and structural context.
G121S (p.Gly121Ser) variant details
- p.Gly121Ser
- UniProt VAR 003922
- Pathogenic
- in HYCX
- Missense
- EBI: Pathogenic (in HYCX)
- UniProt: Pathogenic (in HYCX)
- Structural context available
- Cited in: New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome. (PMID 7762552)
- Cited in: Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. (PMID 10797421)