| Description |
A dominant negative form of kcnj2 mRNA with the deletion D71V mutation causes loss-of-function phenotypes, which can phenocopy Andersen-Tawil Syndrome (ATS, OMIM no. 600681), a rare, autosomal-dominant disorder characterized by cardiac arrhythmias, periodic paralysis, and a suite of skeletal and craniofacial anomalies. The mutation D71V , ( and others, N216H, R218Q) and pore mutations co-assemble and co-localize to the membrane with the WT and exert a dominant-negative effect on the WT channels. |
