Plasminogen Kanagawa-I, a novel missense mutation, is caused by the amino acid substitution G732R

A new dysplasminogen, plasminogen Kanagawa-I, was identified in a healthy male with no previous thrombotic episodes, His plasma plasminogen (PLC) activity was 51.4% of that of normal pooled plasma (reference interval 70-130%) and the antigen level was 94.2% of that of normal pooled plasma (reference interval 80-150%). Nucleotide sequencing revealed a heterozygous G to A transition in ex-on 18, which resulted in an amino acid substitution of G732R. Both the proband's father and paternal grandfather were heterozygous for this mutation, Interestingly, the grandfather was found to be a compound heterozygote for plasminogen Kanagawa-I and Tochigi (A601T), so that his plasminogen activity and antigen level was 7.7% and 87.2% of that of normal pooled plasma, respectively. However, he has never been affected by significant thrombosis.