Ontology highlight
ABSTRACT:
SUBMITTER: Kapplinger JD
PROVIDER: S-EPMC4907365 | biostudies-literature | 2015 Apr
REPOSITORIES: biostudies-literature
Kapplinger Jamie D JD Tseng Andrew S AS Salisbury Benjamin A BA Tester David J DJ Callis Thomas E TE Alders Marielle M Wilde Arthur A M AA Ackerman Michael J MJ
Journal of cardiovascular translational research 20150409 3
Despite the overrepresentation of Kv7.1 mutations among patients with a robust diagnosis of long QT syndrome (LQTS), a background rate of innocuous Kv7.1 missense variants observed in healthy controls creates ambiguity in the interpretation of LQTS genetic test results. A recent study showed that the probability of pathogenicity for rare missense mutations depends in part on the topological location of the variant in Kv7.1's various structure-function domains. Since the Kv7.1's C-terminus accoun ...[more]