ABCB4 p.Leu1082Gln
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PMID: 17264802
[PubMed]
Lang C et al: "Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury."
No.
Sentence
Comment
5
Results Four highly conserved nonsynonymous mutations were specific for drug-induced liver injury [ABCB11: D676Y (drug-induced cholestasis) and G855R (drug-induced cholestasis); ABCB4: I764L (drug-induced cholestasis) and L1082Q (drug-induced hepatocellular injury)].
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ABCB4 p.Leu1082Gln 17264802:5:222
status: NEW150 Six variant sites were specific for patients with drug-induced liver injury, including three intronic and three coding region changes (synonymous: exon 12: 1314G > A; nonsynonymous: exon 18: 2290A > C-I764L and exon 25: 3245T > A-L1082Q).
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ABCB4 p.Leu1082Gln 17264802:150:230
status: NEW152 18) and the L1082Q mutation in a patient with DH taking amoxicillin/clavulanic acid (no.
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ABCB4 p.Leu1082Gln 17264802:152:12
status: NEW163 The estimated IC50 was 50 and 60 mmol/l for reference BSEP Fig. 4 Extracellular I764L T175A R652G R590Q Cytoplasm L1082Q Secondary structure of multidrug resistance protein 3 (MDR3) with nonsynonymous coding region variants.
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ABCB4 p.Leu1082Gln 17264802:163:114
status: NEW203 The L1082Q site was encountered in a heterozygous patient with amoxicillin/clavulanic acid-induced hepatocellular injury.
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ABCB4 p.Leu1082Gln 17264802:203:4
status: NEW
PMID: 18004213
[PubMed]
Alfirevic A et al: "Tacrine-induced liver damage: an analysis of 19 candidate genes."
No.
Sentence
Comment
196
Two ABCB4 nonsynonymous SNPs (I764L and L1082Q) were specific for drug-induced cholestasis and hepatocellular injury, respectively.
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ABCB4 p.Leu1082Gln 18004213:196:40
status: NEW