|| Long QT Syndrome
|| common in clinvar
aka c.1766G>A (p.Gly589Asp), G589D
This mutation in the KCNQ1 gene is considered one of four founder mutations among people from Finland associated with Long QT syndrome (LQTS).[PMID 19160088]
23andMe name: i5004485
[PMID 19160] [Properties of chlorotetrolic acid and its ester as possible protein acetylenic reagents].
[PMID 10483966] Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects.
[PMID 11216980] A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics.
[PMID 12477631] Death in bathtub revisited with molecular genetics: a victim with suicidal traits and a LQTS gene mutation.
[PMID 12690509] Molecular screening of selected long QT syndrome (LQTS) mutations in 165 consecutive bodies found in water.
[PMID 17329209] A subset of dorsal neurons modulates circadian behavior and light responses in Drosophila.