ABCMdb

PMID: 19919849

Park S, Terzic A
Quaternary structure of KATP channel SUR2A nucleotide binding domains resolved by synchrotron radiation X-ray scattering.
J Struct Biol. 2010 Feb;169(2):243-51. doi: 10.1016/j.jsb.2009.11.005. Epub 2009 Nov 15., [PubMed]

Sentences

No. Mutations Sentence Comment

150 ABCC9 p.Thr1547Ile ABCC9 p.Ala1513Thr ABCC9 p.Val734Ile This includes the NBD1 V734I variant (Fig. 5A), associated with myocardial infarction, and the NBD2 A1513T and T1547I mutations implicated in dilated cardiomyopathy and stress-induced atrial fibrillation, respectively (Fig. 5B). Login to comment 153 ABCC9 p.Thr1547Ile ABCC9 p.Val734Ile While the monomeric structure could not decisively address the structural consequences of either V734I or T1547I mutations due to their remote positions from critical functional motifs (Fig. 5A and B), resolved heterodimer and Fig. 3. Login to comment 160 ABCC9 p.Thr1547Ile Specifically, the NBD2 T1547I, whereby a nucleophilic residue is substituted with a somewhat larger hydrophobic residue found at the tail of the isoform-specific SUR2A C-terminal a-helix (Fig. 5B), compromised solvent accessibility due to proximity from the NBD1/NBD2 heterodimer interface (Fig. 5C). Login to comment 192 ABCC9 p.Val734Ile A case in point is the recently reported variant V734I, implicated in increased susceptibility towards myocardial infarction (Minoretti et al., 2006). Login to comment