Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings
Fig 4
Functional studies of the KIF20A R182W mutant.
(A) Microtubule stimulated ATPase assays for control wild type (WT) and patient (R182W) KIF20A proteins revealed a near complete loss-of-function. (B) Localization of wild type KIF20A (WT) and an engineered “rigor” mutant (E245A) and the patient-associated R182W mutant in HeLa cells revealed that Aurora B remains trapped on chromatin and is not present on the central spindle.