Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.761C>A	p.Ala254Asp	Exon 7	Missense	Disease-causing	Key residue	Not tolerated	Possibly damaging	Highly	Ig 3	Present in two affected males and absent in one unaffected male

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	4	Hydrocephalus, ?	At least two boys died before birth.	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