ABCMdb

PMID: 17112803

Rau T, Erney B, Gores R, Eschenhagen T, Beck J, Langer T
High-dose methotrexate in pediatric acute lymphoblastic leukemia: impact of ABCC2 polymorphisms on plasma concentrations.
Clin Pharmacol Ther. 2006 Nov;80(5):468-76., [PubMed]

Sentences

No. Mutations Sentence Comment

106 ABCC2 p.Val417Ile ABCC2 p.Cys1515Tyr ABCC2 p.Leu927Arg ABCC2 p.Arg1100His ABCC2 p.Arg1100Cys DNA sequence Amino acid change Genotype Frequency of W allele W/W W/R R/R Exon 1 C-24T rs717620 GAAGAGTCTT C/T GTTCCAGACG - 38 20 1 0.81 (0.73-0.87) Exon 10 G1249A rs2273697 GGAGTACACC G/A TTGGAGAAAC Val417Ile 37 22 0 0.81 (0.73-0.87) Exon 21 T2780G - CTGAAGTCCC T/G GAGAAACTCC Leu927Arg 58 1 0 0.992 (0.95-0.998) Intron 21 C2883ϩ11T - GTGAACACCA C/T ACAGAAAAGT - 58 1 0 0.992 (0.95-0.998) Exon 24 C3298T - TCAGTCCTTG C/T GCAGCTGGATT Arg1100Cys 58 1 0 0.992 (0.95-0.998) Exon 24 G3299A - TCAGTCCTTGC G/A CAGCTGGATT Arg1100His 58 1 0 0.992 (0.95-0.998) Intron 27 A3844-73G - GTTCTATGAC A/G CGAGTCCTGG - 53 6 0 0.949 (0.89-0.98) Exon 28 C3972T rs3740066 CTTGTGACAT C/T GGTAGCATGG Ile1324Ile 22 32 5 0.64 (0.55-0.72) Intron 29 G4146ϩ11C rs8187703 GTGAGCTCTA G/C AACTTACTCG - 53 6 0 0.949 (0.89-0.98) Exon 30 G4290T rs7904678 CCCACGAAGT G/T ACAGAGGCTG Val1430Val 53 6 0 0.949 (0.89-0.98) Exon 31 C4488T rs8187707 ACAGGCTGCA C/T ACCATCATGG His1496His 53 6 0 0.949 (0.89-0.98) Intron 31 G4508ϩ12A rs8187708 TGAGTGTAGG G/A GGACAGGGCT - 53 6 0 0.949 (0.89-0.98) Exon 32 G4544A rs8187710 ATTATAGAGT G/A CGGCAGCCCT Cys1515Tyr 53 6 0 0.949 (0.89-0.98) DNA, Deoxyribonucleic acid. Login to comment 133 ABCC2 p.Val417Ile The most frequent polymorphisms in white subjects were C-24T in the 5Ј-UTR of exon 1, G1249A in exon 10 (Val417Ile), and C3972T in exon 28 (Ile1324Ile). Login to comment 134 ABCC2 p.Cys1515Tyr In both the reference and patient population the polymorphisms A3844-73G, G4146ϩ11C, G4290T (Val1430Val), C4488T (His1469His), G4508ϩ12A, and G4544A (Cys1515Tyr) were in complete linkage disequilibrium. Login to comment