I37N (p.Ile37Asn) variant of L1CAM (Neural cell adhesion molecule L1)
I37N (p.Ile37Asn) 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 found in L1 syndrome. The record also includes published literature and structural context.
I37N (p.Ile37Asn) variant details
- p.Ile37Asn
- UniProt VAR 078351
- Pathogenic
- found in L1 syndrome
- Missense
- EBI: Pathogenic (found in L1 syndrome)
- UniProt: Pathogenic (found in L1 syndrome)
- Structural context available
- Cited in: Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. (PMID 19846429)
- Cited in: L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like… (PMID 26891472)