Figure 3.

The c.427G>A (p.Glu143Lys) Mutation in Exon 4 of CA12, and CA12 Expression

Sequence analysis is shown for an unaffected individual (A), an obligatory carrier (B), and an affected individual (C). (D) ConSeq analysis for the p.Glu143Lys residue (marked with an arrow), demonstrating conservation grade 9 (highly conserved). (E) RT-PCR demonstrating that CA12 (as well as actin control) are transcribed in normal human foreskin (1,2) and arm skin (3,4). PCR primer sequences available upon request. Lane 5 = size marker. Lanes 6,7 represent negative controls for CA12 and actin PCR reactions, with no cDNA template.