Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1107C>A	p.Asn369Lys	Exon 9	Missense	Disease-causing	Key residue	Not tolerated	Probably damaging	Highly	Ig 4

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	3	(Dys)agenesis corpus callosum, Aphasia, Hydrocephalus, Hypotonia, Mental retardation, Spastic paraplegia	Index case: >20 yrs	Vos et al. (2010)

Year	Author	Title	Journal	Volume	Pages	Weblink
2010	Vos et al.	Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis	J.Med.Genet	47(3)	169-175	19846429