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

Figure 2

(a) Sequencing results of the ECEL1 mutations. Sequence chromatograms indicate compound heterozygosity (NM_004826: c.69C>A, p.C23 and c.1810G>A, p.G604R) in the family with DA5D. (b) The mutation sites (G604R) are highly evolutionarily conserved across species. The red graph represents mutated amino acids, and the red box emphasizes these sites across species for comparison.

(a)

(b)