H30N (p.His30Asn) variant of L1CAM (Neural cell adhesion molecule L1)
H30N (p.His30Asn) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The record also includes published literature and structural context.
H30N (p.His30Asn) variant details
- p.His30Asn
- UniProt VAR 030403
- Missense
- Structural context available
- Cited in: Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. (PMID 10797421)