AKAP9 mutations cause long-QT syndrome manifested by cardiac arrhythmia [ 18, 19].
Impaired PIP2 and IKs interaction was recently shown to be the basis of several mutations causing long QT syndrome, a genetic disease characterized by cardiac arrhythmias and deafness [ 45].
Furthermore, rve8 loss of function mutations cause a long circadian period (Farinas and Mas, 2011; Rawat et al., 2011) which is opposite to the phenotypes of cca1 or lhy loss of function mutants (Green and Tobin, 1999; Mizoguchi et al., 2002).
Cav1.3 activating mutations are not expected to cause long QT syndrome, a frequent cause of early cardiac death in patients with Timothy syndrome (17).
Comparison of chemical shifts of mutant and WT proteins reveals that the YLTA and CPAP consensus mutations cause unexpected long-range effects throughout the AR domains.
Gain-of-function mutations in the cardiac sodium channel gene Scn5a can cause long QT syndrome 3 (LQT3) and arrhythmic death by torsades de pointes (TdP).
It follows that continuous selection on microsatellites with high mutation rates may cause long-term reductions in linked sequence diversity.
Similar mutations in the human erg gene (HERG) cause long-QT syndrome, a type of cardiac arrhythmia [18].
Elevated expression of GL7, which might be caused by increased copy number or mutations in the promoter, caused long grains due to increased cell elongation in spikelet hulls (Wang et al., 2015b; Zhou et al., 2015), although another study showed that GL7 promotes cell proliferation in the grain-length direction (Wang et al., 2015a).
Although Rab7 is ubiquitously expressed, disease mutations cause adult-onset, slowly progressive disease that is restricted to the neurons with the longest axonal projections.
