Table 3.

Confirmed Common and Rare Nonsynonymous Single Nucleotide Polymorphisms (SNP)

Gene	Exon	Codon	Amino acid	Ethnicity	Disordera	Frequency A-A whitesb		Comments
Common (>1%)c
ACAT2	7	ACC→ATC	T254Id	Multiple	—	0.20	0.25
CHA1	1	GGC→AGC	G2S	Multiple	—	—	—	Acton et al. 1999
	3	GTC→ATC	V135I	Multiple	—	—	—	Acton et al. 1999
SCAP	15	GTC→ATC	V796I	Multiple	—	0.15	0.48	Iwaki et al. 1999
SREBF-2	10	GCC→GGC	A595G	Multiple	—	0.39	0.75
	10	GTG→ATG	V623M	A-A	—	0.04	0
	14	AGG→AGC	R860S	Multiple	—	0.02	0.05
Rare (<1%)c
HMGCR	16	ATA→GTA	I638V	Caucasian	Atypical Type III	0	0	Insufficient datae
				Caucasian	FCHL			Insufficient data
				Caucasian	FCHL			No co-segregation
				Caucasian	Low HDL-C (AD)			No co-segregation
LDLR	3	GAC→GTC	D79V	Caucasian	Atypical Type III	0	0	See Fig. 1A. Not  detected by SSCP.
	4	TCG→TTG	S156L	Puerto Rican	FH	0	0	Hobbs et al. 1992
	6	GAG→AAG	E256K	Caucasian	Diet-induced	0	0	Ekstrom et al. 1995
					HCL			Family not available.
S1P	13	AAC→AGC	N544S	Greek	FCHL	0	0	No co-segregation.
	20	CAG→TAG	Q868X	Caucasian	Polygenic HCL	0	0	See Fig. 1B. No co-segregation.
SREBF1	18a	CGG→CAG	R1064Q	Caucasian	Type V, DM	0	0	No co-segregation.

^aAbbreviations: FH, Familial Hypercholesterolemia; HCL, hypercholesterolemia; DM, Diabetes Mellitus; FCHL, Familial Combined Hyperlipidemia; HDL-C, HDL-cholesterol; A-A, African-Americans. 

^bMinor allele frequency in African-Americans (A-A) and Whites. 

^cCommon (>1%) or rare (<1%) in the general population. 

^dIsoleucine at amino acid position 254 is substituted for threonine. All amino acids are numbered according to the initiator codon (ATG) being position 1. 

^eNot a sufficient number of segregations in the family of the proband to assess relationship between sequence variant and the hyperlipidemia.