PMID: 20216335

Hodges LM, Markova SM, Chinn LW, Gow JM, Kroetz DL, Klein TE, Altman RB
Very important pharmacogene summary: ABCB1 (MDR1, P-glycoprotein).
Pharmacogenet Genomics. 2011 Mar;21(3):152-61., [PubMed]
Sentences
No. Mutations Sentence Comment
40 ABCB1 p.Ile1196Ser
X
ABCB1 p.Ile1196Ser 20216335:40:206
status: NEW
view ABCB1 p.Ile1196Ser details
 In humans, spontaneous deletion of ABCB1 has not been described, but a nonfunctional variant was found in two heterozygous individuals in which a single nucleotide polymorphism (SNP), T3587G, results in an isoleucine to serine change at residue 1196 in the second ATP-binding domain of P-gp [39]. Login to comment 106 ABCB1 p.Ser893Ala
X
ABCB1 p.Ser893Ala 20216335:106:118
status: NEW
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 The three most common SNPs in the protein coding region are rs1128503 (1236T > C, Gly412Gly), rs2032582 (2677T > G/A, Ser893Ala/Thr), and rs1045642 (3435T > C, Ile1145Ile) [125], according to the National Center for Biotechnology Information build 130 of dbSNP. Login to comment 111 ABCB1 p.Ser893Ala
X
ABCB1 p.Ser893Ala 20216335:111:42
status: NEW
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ABCB1 p.Ser893Ala
X
ABCB1 p.Ser893Ala 20216335:111:101
status: NEW
view ABCB1 p.Ser893Ala details
 Rs2032582 (2677T > G/A, mRNA 3095T > G/A, Ser893Ala/Thr) The triallelic SNP, rs2032582 (2677T > G/A, Ser893Ala/ Thr), has been well studied because it is a common amino acid change in P-gp. Login to comment