The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D

Figure 3

ECEL1 mutations identified in DA5D patients. The rectangular box represents the ECEL1 protein with the N-terminus on the left and C-terminus on the right. Known functional domains include a cytoplasmic domain (indicated by the red box), a transmembrane domain (yellow box), and an extracellular domain (gray box) with a zinc binding motif (green box). Vertical arrows show the approximate location of mutations of ECEL1. The red words represent previous mutations.