Figure 2
From: A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome
(a) Electropherogram of COL11A1 (NM_001854.3) exon 61 and flanking intron 60 in the affected siblings (IV:1 and IV:2). Red arrowheads denote the mutated base. The DNA and corresponding amino acid sequences of wild-type and mutant COL11A1 alleles are shown. (b) Multiple alignment of the COL11A1 amino acid sequences around codon 1507. The red arrowhead denotes the mutated amino acid. Dots indicate conserved Gly in the Gly-X-Y repeating pattern. Amino acids not matched with those in Homo sapiens are light gray.
