Skip to main content
letter
. 2016 Sep 15;3:16030. doi: 10.1038/hgv.2016.30

Figure 2.

Figure 2

(a) Electropherogram of COL5A2 (NM_000393.3) exon 9 and intron 9 sequences in the DNA of the patient and his parents. The arrowhead denotes the position of the mutated base (NM_000393.3:c.682G>A) in the patient. The DNA and corresponding amino acid sequences of the wild type and mutant COL5A2 alleles are also shown. (b) Alignment of the COL5A2 amino acid sequence around codon 228 in different mammalian species. The arrowhead denotes the position of the p.Gly228Arg mutation. The dots indicate the conserved Gly of the (Gly-X-Y)n repeat in the collagen triple helix. The amino acids that are not matched with those in Homo sapiens are depicted in light gray.