. Author manuscript; available in PMC: 2020 Jul 21.

Published in final edited form as: Drug Metabol Drug Interact. 2011 Nov 18;26(4):169–179. doi: 10.1515/DMDI.2011.027

Table 2.

Disease associations, single nucleotide polymorphisms and corresponding amino acid changes for the ABC transporters: ABCB1, ABCC1, ABCG2, ABCG5 and ABCG8.

ABC transporter	Associated disease	Single nucleotide polymorphism (SNP)	Amino acid position and change
ABCB1	Infl ammatory bowel disease	C3435T	–
		G2677T/A	A893S or A893T
		C1236T	–
ABCC1	Chronic obstructive pulmonary disease; cystic fibrosis	G1299T	R433S
		G128C	C43S
		G2012T	G671V
		rs35621 [C/T]	–
		rs212903 [C/T]	–
		rs4148382 [A/G]	–
ABCG2	Gout	G238A	V12M
		C625A	Q141K
		G2062A	D620N
ABCG5	Sitosterolemia	C1950G	Q604E
ABCG8	Sitosterolemia; gallstone disease	G145C	D19H
		A251G	Y54C
		C1289A	T400K
		T1985C	V632A