Mutation detection in Chinese patients with familial hypercholesterolemia

SpringerPlus

Table 2 Mutations found in the Chinese and their predicted effect

Patient	Gene	Exon	cDNA	Protein	Protein prediction			PMID
Patient	Gene	Exon	cDNA	Protein	Mutation taster	Polyphen-2	SIFT	PMID
F1^a	LDLR	4	c.516C>A	p.D172E	Disease causing	Probably damaging	Deleterious	Novel
F2^b	LDLR	12	c.1720C>A	p.R574S	Disease causing	Probably damaging	Deleterious	Novel
F3^c	LDLR	5 9	c.760C>T/ c.1216C>A	p.Q254X/ No	Disease causing/ Disease causing	Unknown Unknown	Deleterious/Tolerated	Novel/ 17335829
F4^b	LDLR	13	c.1954_1955delAT	p.M652GfsX16	Disease causing	Probably damaging	Deleterious	20538126
F5^b	LDLR	4	c.682G>T	p.E228X	Disease causing	Unknown	Unknown	1301956
F6^b	LDLR	4	c.485C>T	p.P162L	Disease causing	Probably damaging	Deleterious	12436241
F7^b	LDLR	13	c.1897C>T	p.R633C	Disease causing	Probably damaging	Deleterious	9259195
F8^c	LDLR	8	c.1132C>T	p. Q378X	Disease causing	Unknown	Unknown	11005141
		10	c.1448G>A	p.W483X	Disease causing	Unknown	Unknown	11810272
F9^b	LDLR	12	c.1747C>T	p.H583Y	Disease causing	Probably damaging	Deleterious	7903864
F10^b	APOB	26	c.10579C>T	p.R3527W	Disease causing	Probably damaging	Deleterious	7903864

^aHomozygous mutation, ^b heterozygous mutation, ^c compound heterozygous mutations