Summary of JAG1 mutations identified in patients.

Novel variants are in bold font; cases previously reported are in italic font. Conserved regions of JAG1 protein include the signal peptide (SP), the delta-serrate-lin12-like region (DSL), epidermal growth factor (EGF)-like repeats, the cysteine-rich (CR) region, and the transmembrane (TM) domain; 5´ of DSL: the region between SP and DSL domain; 5´ of TM: the region between CR and TM.het: heterozygous; MPLA: multiplex-ligation-dependent probe amplification; ND: not done.Summary of JAG1 mutations identified in patients.