PMID: 15978902

Shi NQ, Ye B, Makielski JC
Function and distribution of the SUR isoforms and splice variants.
J Mol Cell Cardiol. 2005 Jul;39(1):51-60. Epub 2005 Feb 5., [PubMed]
Sentences
No. Mutations Sentence Comment
69 ABCC8 p.Val187Asp
X
ABCC8 p.Val187Asp 15978902:69:312
status: NEW
view ABCC8 p.Val187Asp details
ABCC8 p.Ala116Pro
X
ABCC8 p.Ala116Pro 15978902:69:302
status: NEW
view ABCC8 p.Ala116Pro details
 When the RKR motif in a DF1388 mutant of SUR1 (a PHHI mutation) was mutated to AAA, the re-constituted DF1388SUR1AAA/KIR6.2 channel was somewhat active and could be expressed at the cell surface partially [22,23].A most recent study in trafficking issue of other mutant KATP channels revealed that the A116P and V187D mutants (mutations cause congenital hyperinsulinism) of SUR1 could be rescued to the cell membrane surface by sulfonylureas [24]. Login to comment