Skip to main content
. 2015 Feb 10;24(1):33–36. doi: 10.1297/cpe.24.33

Fig. 2.

Fig. 2.

Results of the COL10A1 gene analysis. a) A substitution from adenine at 1663 in the COL10A1 cDNA to cytosine (c.1633 c>a) that results in an amino acid change from threonine at 555 in the type X collagen α1 chain to proline (p.T555P) was identified in this patient and his mother, but it was not identified in his father. b) Threonine at position 555 in Homo sapiens is conserved in various species. The conserved threonine is highlighted in the shaded box. c) PolyPhen-2 analysis of the p.T555P mutation.