PMID: 18450778

Dupuis JP, Revilloud J, Moreau CJ, Vivaudou M
Three C-terminal residues from the sulphonylurea receptor contribute to the functional coupling between the K(ATP) channel subunits SUR2A and Kir6.2.
J Physiol. 2008 Jul 1;586(13):3075-85. Epub 2008 May 1., [PubMed]
Sentences
No. Mutations Sentence Comment
37 ABCC8 p.Phe132Leu
X
ABCC8 p.Phe132Leu 18450778:37:289
status: NEW
view ABCC8 p.Phe132Leu details
 However, most of these works concluded that there was a major role of TMD0 in the control of the Kir6.2 open probability (Po) but none of them defined it as essential in pharmacological responsiveness of the channel, except for the report of a heterozygous mutation in cytoplasmic loop 2, F132L, responsible for changes in ATP and tolbutamide sensitivity (Proks et al. 2006). Login to comment 53 ABCC8 p.Glu1305Ala
X
ABCC8 p.Glu1305Ala 18450778:53:687
status: NEW
view ABCC8 p.Glu1305Ala details
ABCC8 p.Glu1305Val
X
ABCC8 p.Glu1305Val 18450778:53:563
status: NEW
view ABCC8 p.Glu1305Val details
 The exact amino acid composition of SUR2A-MRP1 chimeric constructs and mutants were: S1M, SUR2A(M1-V1275) + MRP1(E1262-R1342) + SUR2A(M1358-K1545); S2M, SUR2A(M1-V1275) + MRP1(E1262-L1300) + SUR2A(R1316-K1545); S3M, SUR2A(M1-V1315) + MRP1(R1301-R1342) + SUR2A(M1358-K1545); S4M, SUR2A(M1-V1275) + MRP1(E1262-E1271) + SUR2A(S1286-K1545); S5M, SUR2A(M1-E1285) + MRP1(K1272-P1283) + SUR2A(P1299-K1545); S6M, SUR2A(M1-V1298) + MRP1(P1284-G1291) + SUR2A(E1307-K1545); S7M, SUR2A(M1-Q1304) + MRP1(V1290-L1300) + SUR2A(R1316-K1545); SUR2A(EIL/VFY), SUR2A with mutations E1305V, I1310F and L1313Y; S7M(VFY/EIL), S7M with mutations V1305E, F1310I and Y1313L; SUR2A(EIL/AAA), SUR2A with mutations E1305A, I1310A and L1313A. Login to comment