Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2072C>A	p.Ala691Asp	Exon 16	Missense	Disease-causing	Key residue	Not tolerated	Probably damaging	Moderately	Fn 1

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	2	MASA syndrome	Two brothers both MASA	Du et al. (1998b)

Year	Author	Title	Journal	Volume	Pages	Weblink
1998b	Du et al.	Multiple exon screening using restriction endonucleases fingerprinting (REF): Detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene	Hum. Mutat.	11	222-230	9521424
2000	Kenwrick et al.	Neural cell recognition molecule L1: relating biological complexity to human disease mutations	Hum. Mol. Genet.	9	879-886	10767310