ABCB1 p.Lys48Asn
| Predicted by SNAP2: | A: N (66%), C: N (82%), D: D (53%), E: D (59%), F: N (72%), G: N (66%), H: N (78%), I: N (82%), L: N (78%), M: N (78%), N: N (57%), P: D (53%), Q: N (61%), R: N (82%), S: N (72%), T: N (78%), V: N (78%), W: N (66%), Y: N (87%), |
| Predicted by PROVEAN: | A: N, C: N, D: N, E: N, F: N, G: D, H: N, I: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: D, Y: N, |
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[hide] Genetic variations and haplotype structures of the... Ann Hum Genet. 2006 Sep;70(Pt 5):605-22. Sai K, Itoda M, Saito Y, Kurose K, Katori N, Kaniwa N, Komamura K, Kotake T, Morishita H, Tomoike H, Kamakura S, Kitakaze M, Tamura T, Yamamoto N, Kunitoh H, Yamada Y, Ohe Y, Shimada Y, Shirao K, Minami H, Ohtsu A, Yoshida T, Saijo N, Kamatani N, Ozawa S, Sawada J
Genetic variations and haplotype structures of the ABCB1 gene in a Japanese population: an expanded haplotype block covering the distal promoter region, and associated ethnic differences.
Ann Hum Genet. 2006 Sep;70(Pt 5):605-22., [PMID:16907707]
Abstract [show]
As functional ABCB1 haplotypes were recently reported in the promoter region of the gene, we resequenced the ABCB1 distal promoter region, along with other regions (the enhancer and proximal promoter regions, and all 28 exons), in a total of 533 Japanese subjects. Linkage disequilibrium (LD) analysis based on 92 genetic variations revealed 4 LD blocks with the same make up as previously described (Blocks -1, 1, 2 and 3), except that Block 1 was expanded to include the distal promoter region, and that a new linkage between polymorphisms -1,789G>A in the distal promoter region and IVS5 + 123A>G in intron 5 was identified. We re-assigned Block 1 haplotypes, and added novel haplotypes to the other 3 blocks. The reported promoter haplotypes were further classified into several types according to tagging variations within Block 1 coding or intronic regions. Our current data reconfirm the haplotype profiles of the other three blocks, add more detailed information on functionally-important haplotypes in Block 1 and 2 in the Japanese population, and identified differences in haplotype profiles between ethnic groups. Our updated analysis of ABCB1 haplotype blocks will assist pharmacogenetic and disease-association studies carried out using Asian subjects.
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No. Sentence Comment
67 Novel variations included 8 nonsynonymous substitutions: 49T>C(F17L), 144G>T(K48N), 304G>C(G102R), 1342G>A(E448K), 1804G>A(D602N), 2359C>T (R787W), 2719G>A(V907I) and 3043A>G(T1015A); and 2 synonymous substitutions: 354C>T (Y118Y) and 447A>G(K149K); with frequencies ranging from 0.001 to 0.005.
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ABCB1 p.Lys48Asn 16907707:67:77
status: NEW93 Haplotype groups * 2 to * 5 were defined by the nonsynonymous SNPs 325G>A(E109K) (* 2), 304G>C(G102R) (* 3), 49T>C(F17L) (* 4) and 144G>T(K48N) (* 5).
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ABCB1 p.Lys48Asn 16907707:93:140
status: NEW103 E3 x. 4 32-40 - 32 91 81- 47 - 871 9 - 641 6 -1 164 _41 75 31-47 - 9721 1801- 5601- 968 317 415 219 I 1SV 87-94 VI S3 63+ 441 4SVI 76 4SVI 25 03 4 325 5SVI 67+ VI S5 1+ 32 C>T G T> C>T G A> A>G ACled CT C C>T A G> C>T T C> A>G A G> G>C T C> Gled T C> T>C G T> C>T G T> C>G G A> G>T A G> 1F L7 K48N G1 20 R E 01 9K FN req eu cn y a1* 5.0 41 b1* 0.0 98 c1* 0.0 79 d1* 0.0 41 e1* 0.0 29 1* f 0.0 28 1* g 0.0 28 h1* 0.0 22 1* i 0.0 17 1* j 0.0 16 k1* 0.0 15 L1* 0.0 12 m1* 0.0 10 n1* 0.0 10 o1* 0.0 04 1* p 0.0 03 1* q 0.0 02 1* r 0.0 02 s1* 0.0 02 1* t 0.0 02 u1* 0.0 02 v1* 0.0 01 1* w 0.0 01 x1* 0.0 01 1* y 0.0 01 tO hers 0.0 09 2* a2* 2 0.0 17 3* a3* 3 0.0 05 4* 4* ?a 4 0.0 01 5* 5* ?a 5 0.0 01 1* elcuN o it ced h egna A nim o acid hc egna .tnI 5.xE 5iS te oP is tion Ex '5(1.
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ABCB1 p.Lys48Asn 16907707:103:292
status: NEW