Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1546G>A	p.Asp516Asn	Exon 12	Missense	Likely disease-causing	Surface site	Tolerated	Benign	Low	Ig 6	De novo in mother. Affects RNA splicing most likely

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	Adducted thumbs, Aphasia, Hydrocephalus, Hypotonia, Mental retardation, Spastic paraplegia	> 3 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