ABCMdb

PMID: 16907707

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., [PubMed]

Sentences

No. Mutations Sentence Comment

67 ABCB1 p.Asp602Asn ABCB1 p.Thr1015Ala ABCB1 p.Lys48Asn ABCB1 p.Val907Ile ABCB1 p.Gly102Arg ABCB1 p.Glu448Lys ABCB1 p.Phe17Leu ABCB1 p.Arg787Trp 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 ABCB1 p.Glu109Lys ABCB1 p.Lys48Asn ABCB1 p.Gly102Arg ABCB1 p.Phe17Leu 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 ABCB1 p.Lys48Asn ABCB1 p.Lys48Asn 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 117 ABCB1 p.Met986Val ABCB1 p.Asp602Asn ABCB1 p.Thr1015Ala ABCB1 p.Val907Ile ABCB1 p.Glu448Lys ABCB1 p.Arg787Trp Novel haplotype groups bearing amino acid substitutions were assigned as * 12 [1804G>A (D602N)], * 13 [2719G>A (V907I)], * 14 [1342G>A (E448K)], * 15 [2956A>G (M986V)], * 16 [3043A>G (T1015A)], and * 17 [2359C>T(R787W)], xE6.Int.6In.t7Itn8.Iin.t9Itn1.0nI.t12Int.14Ex.15xE1.9nI.t19Ex.22nI.t42 VI5S 2+32 VI5S +422 447 I6SV 1-90 VI7S 1+4 I8SV 601- I9SV 44- I1SV0 4-1 32161342 I1SV2 1+7 VI1S3 2+4 VI31S 18+ I1SV4 3+8 0814 VI51S 59- I1SV5 6-9 VI1S6 5+2 VI61S 37+ I1SV6 7-6 VI1S8 8+7 VI81S 53- 2953 VI1S9 8-8 VI02S 42+ I2SV0 -351 76272677 I2SV1 4+9 VI2S1 7-3__ 7-6 729126594033 VI42S 1+6 3534 VI2S6 5+9 VI62S 8+0 A>TG>TAG>>GTG>AA>G>GATG>C>TGA>>GATC>C>TG>AG>AAG>>TCAC>A>GTA>C>TG>CC>TC>TGA>>AGGA>>GTT>C edl CTGT G>AA>GAG>C>TC>T>TGTC> 941KK214GGEK844D206NR787WAT3988AS39I709VM9V68T1A510I1I541FNreqcneuy 1*e711011.0 1*f74440.0 1*g72520.0 1*L01900.0 1*h60600. Login to comment 159 ABCB1 p.Val1251Ile ABCB1 p.Ile1196Ser As observed previously, the rare haplotype groups * 2 [3751G>A (V1251I)] and * 3 [3587T>G (I1196S)] were observed at frequencies of 0.014 and 0.001, respectively. Login to comment 215 ABCB1 p.Glu109Lys ABCB1 p.Gly102Arg As indicated by the cladograms in the previous section, our study revealed that subgroup A, previously classified as wild-type, could be further classified into six types: the major * 1a type without any marker variation and five other types with either IVS1 -78delG (* 1c), IVS4 - 25G>T (* 1d), 325G>A(E109K) (* 2a), IVS5 + 123A>G (* 1n), or 304 G>C(G102R) (* 3a). Login to comment 264 ABCB1 p.Glu109Lys ABCB1 p.Gly102Arg In total our data revealed 11 tagging variations in Block 1: -1789G>A, -1461 -1457CATCdel, -371A>G, -145C>G, -129T>C, IVS1 - 78delG, IVS4 - 25G>T, 304G>C (G102R), 325G>A (E109K), IVS + 76T>G and IVS5 + 123A>G. Login to comment