M172I (p.Met172Ile) variant of L1CAM (Neural cell adhesion molecule L1)
M172I (p.Met172Ile) 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 a patient with L1 syndrome. The record also includes published literature and structural context.
M172I (p.Met172Ile) variant details
- p.Met172Ile
- UniProt VAR 078358
- Pathogenic
- found in a patient with L1 syndrome
- Missense
- EBI: Pathogenic (found in a patient with L1 syndrome)
- UniProt: Pathogenic (found in a patient with 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)