ABCMdb

ABCB1 p.Val907Ile

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
117 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