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. 2012 Mar 2;3(2):135–148. doi: 10.3945/an.111.001719

Figure 4.

Figure 4

Naturally occurring carboxylase mutants. A, Mutants discovered due to impaired hemostasis. The P80L, M174R, H404P, R485P, W493C, I532T, and R704STOP mutants have not yet been characterized. The D31N mutation appears to have no functional effect. The remaining mutants exhibit a variety of functional defects that have advanced understanding of the carboxylase. B, Mutants discovered due to the PXE-like phenotype. Only V255M and S300F have been characterized. Although the PXE-like phenotype is most prominent, mildly impaired hemostasis is generally also associated with these mutants. Interestingly, although W493C was identified due to impaired hemostasis, W493S was independently discovered due to PXE-like symptoms.