Fig. 3From: Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfectaThe alignment of DNA and protein sequences of COL1A1 gene is illustrated. The G to T transversion (red rectangle) in exon 33/34 at the position 2317 of the COL1A1 gene leads to Gly773 Cys substitution. At the same position, already known SNP (rs72651659) is located, but the known SNP is the G to A transition that leads to Gly773 Ser substitutionBack to article page