PMID: 22027652

Elens L, Tyteca D, Panin N, Courtoy P, Lison D, Demoulin JB, Haufroid V
Functional defect caused by the 4544G>A SNP in ABCC2: potential impact for drug cellular disposition.
Pharmacogenet Genomics. 2011 Dec;21(12):884-93., [PubMed]
Sentences
No. Mutations Sentence Comment
1 ABCC2 p.Cys1515Tyr
X
ABCC2 p.Cys1515Tyr 22027652:1:86
status: NEW
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 The 4544G > A (rs8187710) single nucleotide polymorphism (SNP), which is coding for a C1515Y substitution, has been previously associated with susceptibility to cholestatic liver disease, doxorubicin cardiotoxicity, nonalcoholic fatty liver disease, decreased graft function after renal transplantation and tenofovir-induced proximal nephropathy. Login to comment 9 ABCC2 p.Cys1515Tyr
X
ABCC2 p.Cys1515Tyr 22027652:9:15
status: NEW
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 Conclusion The C1515Y amino acid substitution caused by the 4544G > A SNP in ABCC2 impairs its ATPase activity and is associated with higher cellular accumulation of ABCC2 substrates. Login to comment 220 ABCC2 p.Val1188Gln
X
ABCC2 p.Val1188Gln 22027652:220:156
status: NEW
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 Of considerable interest for further studies, the 4544G > A SNP is in strong linkage disequilibrium in vivo with the ABCC2 rs17222723 SNP, which leads to a glutamine to valine substitution at position 1188 in ABCC2: the functional consequences of this SNP remain unexplored. Login to comment