ABCMdb

ABCC2 p.Ala1119Thr

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Publications

PMID: 17975148 [PubMed] Gamelin L et al: "Predictive factors of oxaliplatin neurotoxicity: the involvement of the oxalate outcome pathway."

No. Sentence Comment

115 The variants of AGXT, GHPR, GSTk, and ABCC2 genes being looked for Variants Amino acids AGXT 154C>T 11Pr>Leu 155C del Codon 45 stop 156Cins Codon 167 stop Duplication 74 bp intron 1 576T>A 152Phe>Ile 588G>A 156Gly>Arg 630G>A 170Gly>Arg 640G>A 173Cys>Tyr 819C>T 233Arg>Cys 820G>A 233Arg>His 853T>C 244Ile>Thr 860G>A 246TrpStop A1119T Arg333Stop A1142G Ile340Met GRHPR 103Gdel (codon 35) 45LeuStop 295C>T 99ArgStop [AAGT]del Splicing error (codon 135 stop) 494G>A 165Gly>Asp G/A intron G Deletion of exon 8 965T>G Met322Arg GSTk 313A>G Ile105Val 341C/T Ala114Val ABCC2 24C>T 3972C>T Predictive Factors of Oxaliplatin Neurotoxicity www.aacrjournals.org Clin Cancer Res 2007;13(21) November 1, 20076361 Statistical analysis Frequencies of the different gene variants and the toxic side effects were measured and then compared. Login to comment
257 Results of the detection of the variants of AGXT and GRHPR genes in 135 patients and frequency of AGXT minor haplotype Variant Amino acids No. patients Variant Amino acids No. patients GRHPR AGXT 103Gdel (codon 35) 45LeuStop 0 154C>T 11Pr>Leu 45 (30%) 155 C del Codon 45 stop 0 156Cins Codon 167 stop 0 295C>T 99ArgStop 0 Duplication 74 bp intron 1 46 (30%) [AAGT]del Splicing error 0 576T>A 152Phe>Ile 0 (codon 135 stop) 588G>A 156Gly>Arg 0 630G>A 170Gly>Arg 0 640G>A 173Cys>Tyr 0 494G>A 165Gly>Asp 0 819C>T 233Arg>Cys 0 820G>A 233Arg>His 0 853T>C 244Ile>Thr 0 860G>A 246TrpStop 0 G/A intron G Deletion exon 8 0 A1119T Arg333Stop 0 A1142G Ile340Met 44 (30%) 965T>G Met322Arg 0 154C>T 1142A> genotype No. patients % CC AA (major haplotype) 102 68.5 CC AG (H) 1 0.6 CT AA (H) 2 1.3 CT AG (H) 36 24.2 CT GG (H) 1 0.6 TT AG (M) 1 0.6 TT GG (M) 6 4 Minor haplotype 47 31.5 NOTE: The genotype of the duplication of intron 1 is in brackets. Login to comment