ABCMdb

ABCB1 p.Lys48Asn

None has been submitted yet.

Publications

PMID: 16907707 [PubMed] Sai K et al: "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."

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. Login to comment
93 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). Login to comment
103 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. Login to comment