FIGURE 2.

Amino acid sequences of the COL6A2 C-globular domains and the location of missense mutations. A, alignment of the amino acid sequences of the COL6A2 C1 and C2 subdomains with that of the vWF-A3 domain. Locations of α2-E624K and α2-R876S mutations are indicated in red. Previously reported compound heterozygous C2 subdomain mutations, L837P and N897del, are shown in green. Secondary structure assignments of the vWF-A3 domain (seven α-helices and seven β-strands) are shown, and the MIDAS site is boxed. B, amino acid sequences of the COL6A2 splice variants. The COL6A2-C2 and COL6A2-C2a differ in the sequences at the end of C-globular domains due to mutually exclusive use of the most 3′-exons. Sequences shown include 10 amino acids of the constant region (in red) followed by the C2 or C2a subdomains (in black).