Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.516G>A	p.Met172Ile	Exon 5	Missense	Likely disease-causing	Surface site	Not tolerated	Probably damaging	Highly	Ig 2

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	3	Hydrocephalus, Mental retardation, Spastic paraplegia	Variation detected in 2 affected brothers and 1 affected sister. All >10 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