IndraLab

"The 3 calmodulin genes ( CALM1-3 ) were scored separately but discussed as a group because they all encode for an identical protein. xref CALM1 and CALM2 were first associated with LQTS by exome sequencing of 2 unrelated infants with QT prolongation where de novo variants were identified. xref Subsequent studies uncovered further genetic evidence for these genes, including CALM3. xref – xref Most recently, the International Calmodulinopthy Registry has published a series of 36 LQTS cases secondary to rare variants distributed among all 3 CALM genes. xref In all cases identified, no other family members were found to be phenotype-positive and were thus concordant with de novo variants, although not in all families was this proven by sequencing of both parents and confirmation of paternity."

"Interestingly, a difference in fluorescence amplitudes between Cam1 and Cam2 binding to the IQ12 motif indicated an impact upon the conformation of the lever arm (Figure 2G), providing a potential mechanism to control Myo1 motor activity directly."

"The efficiency of these tools facilitated analysis of the functions of the essential CaM3 gene as well as the synthetic lethal interaction between CaM1 and CaM2 ."