Figure 1.

Figure 1.

Schema of the FGFR3 protein

The loops represent the three immunoglobulin domains (left to right: IgI, IgII, IgIII). The p.Pro250Arg protein change (indicated with a black dot) is in the linker region between the second and third immunoglobulin domains. The grey boxes following the third immunoglobulin domain are (left to right): transmembrane domain (small grey box); first and second tyrosine kinase domains (2nd and 3rd dark grey boxes, respectively) [Cunningham et al 2007].

From: Muenke Syndrome

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