Table 3

Mutations of NPC1 gene in Niemann-Pick C families

Clinical type	Cell strain		Genomic mutation	cDNA change	Amino acid change	Genotype
Late infantile		OHS	Exon 19	G2867A	Missense transition	C956Y	Cmpd hetero?
		KUR	Exon 9	G1553A	Missense transition & splicing error	R518Q	Homo
		INO	Exon 9	G1553A	Missense transition & splicing error	R518Q	Homo
		TAN		Exon 9	G1553A	Missense transition & splicing error	R518Q	Cmpd hetero
		TAN		Exon 24	^3-150C3614G	Missense transversion	T1205R
		UCH	Exon 9	A1529C	Missense transversion	H510P	Homo
		AMA		Exon 4	350(or351)AG(orGA) del	2 bp del	aa 119 frameshift-aa126/stop	Cmpd hetero
		AMA		Exon 5	T529G	Missense transversion	C177G
		YON		Exon 20	^3-150T2987G	Missense transversion	M996R	Cmpd hetero
		YON		Exon 24	^3-1503615[-3618]A del	1 bp del	aa 1205 frameshift-aa1241/stop
		SHI		Exon 13	^3-150T2108C	Missense transition	F703S	Cmpd hetero
		SHI		Exon 16	^3-150C2438G	Missense transversion	S813X
		MUR		Exon 5	C629A	Nonsense transversion	S210X	Cmpd hetero
		MUR		Exon 9	T1417C	Missense transition	S473P
		YAN	Exon 24	^3-150G3707A	Missense transition	G1236E	Cmpd hetero?
		SAK		Exon 19	G2867A	Missense transition	C956Y	Cmpd hetero
		SAK		Exon 24	^3-1503615[-3618]A del	1 bp del	aa 1205 frameshift-aa1241/stop
		431-1		Exon 24	^3-1503615[-3618]A del	1 bp del	aa 1205 frameshift-aa1241/stop	Cmpd hetero
		431-1		Exon 19	^3-151C2861T	Missense transition	S954L
		GM03123		Exon 6	C709T	Missense transition	P237S	Cmpd hetero
		GM03123		Exon 21	T3182C	Missense transition	I1061T
		GM110		Exon 21	T3182C	Missense transition	I1061T	Cmpd hetero
		GM110		Exon 14	^3-1502215(or2217) TCCTTT(orCTTTTC) del	6 bp del	2 aa deletion (740F,741S)(in frame)
Juvenile		SAS	Exon1	44(or45) TG(orGT) del	2 bp del	aa 16 frameshift-aa56/stop	Cmpd hetero?
		END		Exon 22	A3263G	Missense transition	Y1088C	Cmpd hetero
		END		Exon 24	G3639C	Missense transversion	L1213F
Adult		KAI		Exon 18	G2665A	Missense transition	V889M	Cmpd hetero
Adult		KAI		Intron 20	IVS20 -2A del	Splicing error (54 bp del)	18 aa deletion (1015-1032)(in frame)

↵3-150 : new mutation,
↵3-151 : recurrent mutation, Cmpd hetero: compound heterozygous, Homo: homozygous, (): not confirmed, del: deletion.