ABCMdb

PMID: 11901087

Itoda M, Saito Y, Soyama A, Saeki M, Murayama N, Ishida S, Sai K, Nagano M, Suzuki H, Sugiyama Y, Ozawa S, Sawada Ji J
Polymorphisms in the ABCC2 (cMOAT/MRP2) gene found in 72 established cell lines derived from Japanese individuals: an association between single nucleotide polymorphisms in the 5'-untranslated region and exon 28.
Drug Metab Dispos. 2002 Apr;30(4):363-4., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCC2 p.Val417Ile ABCC2 p.Ser789Phe Four SNPs, c-24t, g1249a (V417I), c2366t (S789F), and c3972t (I1324I), were the same as those recently reported. Login to comment 22 ABCC2 p.Thr486Ile Of those, 12 nucleotide changes were nonsynonymous, and the frequency for c1457t (T486I) was approximately 0.03 (Table 1). Login to comment 26 ABCC2 p.Val417Ile ABCC2 p.Ser789Phe ABCC2 p.Thr486Ile ABCC2 p.Gln1019His ABCC2 p.Ser1367Cys The amino acid substitutions S789F (c2366t) and S1367C (c4100g) were reportedly located in nucleotide binding domains 1 and 2, respectively, those of V417I (g1249a) and T486I (c1457t) in membrane-spanning domain 2, and that of Q1019H (g3057t) in membrane spanning domain 3 (Toh et al., 1999). Login to comment 29 ABCC2 p.Val417Ile ABCC2 p.Cys1515Tyr ABCC2 p.Ser789Phe ABCC2 p.Asn1244Lys ABCC2 p.Gln1019His ABCC2 p.Ser1367Cys ABCC2 p.Asp883Asn It was strongly suggested that functional changes by the V417I, S789F, D883N, Q1019H, N1244K, S1367C, and C1515Y alterations seemed to be worth assessing because the TM1 to TM5 domains (200 N-terminal amino This study was supported in part by the Program for Promotion of Fundamental Studies in Health Sciences (MPJ-6) of the Organization for Pharmaceutical Safety and Research of Japan. Login to comment 33 ABCC2 p.Pro19Leu In the SNP database of National Center for Biotechnology Information, c-24t, c56t (P19L), and g4290t were registered with accession numbers of rs717620, rs927344, and rs1137968, respectively, indicating the usefulness of searching for possible novel SNPs from established cell lines. Login to comment 57 ABCC2 p.Arg768Trp ABCC2 p.Val417Ile ABCC2 p.Cys1515Tyr ABCC2 p.Ser789Phe ABCC2 p.Val1188Glu ABCC2 p.Ala1450Thr ABCC2 p.Arg1174His ABCC2 p.Asn1244Lys ABCC2 p.Thr486Ile ABCC2 p.Gln1019His ABCC2 p.Ser1367Cys ABCC2 p.Asp883Asn ABCC2 p.Lys961Arg ABCC2 p.Arg100Gln ABCC2 p.Pro19Leu ABCC2 p.Ser281Asn Location Substitution Genotype 72 Cell Linesa (48 Subjects)b Nucleotide Amino Acid w/w w/m m/m 5Ј-Flanking t-751a 71 1 0 5Ј-Flanking c-717t 71 1 0 5Ј-UTR c-24t 52 (31) 14 (16) 6 (1) 5Ј-UTR g-23a 70 2 0 Exon 2 c56t P19L 71 1 0 Exon 3 a234g L78L 71 1 0 Exon 3 g299a R100Q 71 1 0 Exon 7 g842a S281N 71 1 0 Exon 10 g1249a V417I 59 (37) 9 (10) 4 (1) Exon 10 c1457t T486I 69 2 1 Exon 18 c2302t R768W 72 (47) 0 (1) 0 (0) Exon 18 c2366t S789F 71 (47) 1 (1) 0 (0) Exon 20 g2647a D883N 71 1 0 Exon 21 a2882g K961R 71 1 0 Exon 22 g2934a S978S 66 5 1 Exon 22 c3039t T1013T 71 0 1 Exon 22 g3057t Q1019H 71 1 0 Exon 24 g3321t L1107L 71 1 0 Exon 25 g3521a R1174H 71 1 0 Exon 25 t3563a V1188E 71 1 0 Exon 26 t3732g N1244K 71 0 1 Exon 28 c3972t I1324I 49 (29) 14 (17) 9 (2) Exon 29 c4100g S1367C 71 1 0 Exon 30 g4290t V1430V 71 1 0 Exon 31 g4348a A1450T 72 (47) 0 (1) 0 (0) Exon 31 c4488t H1496H 71 1 0 Exon 32 g4544a C1515Y 71 1 0 UTR, untranslated region. Login to comment