Ptk7^chz

A single nucleotide substitution at the 3' end of Ptk7 intron nine (1475-10 A > G). This intron is of the GT-AG subtype, and the mutation creates a splice acceptor site with closer similarity to the consensus sequence than the wild-type. The new splice acceptor site results in a nine nucleotide insertion in the transcript which add the three amino acids alanine-asparagine-proline into the protein, after the fifth IG-like domain. (J:145068, J:163834)