A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient
Figure 2
(a) PSI-BLAST of TGM1 against 1GGT structure of human factor XIIIA, Trp 250 highlighted in yellow with its four angstrom neighbor residues. (b) Factor XIIIA structure 1GGT showing active site residues Cys 314 (yellow), His 373 (red), Asp 396 (cyan), and Trp187 (pink). (c) Structural analysis showing 1GGT Trp187. (d) The possible effect of Trp187Gly (p.W250G in TGM1) mutations.
