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 (PLG) 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 exon 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.
Higuchi
Y
Y
Central Clinical Laboratories, Shinshu University Hospital, Asahi, Matsumoto, Japan.
Furihata
K
K
Ueno
I
I
Ishikawa
S
S
Okumura
N
N
Tozuka
M
M
Sakurai
N
N
D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005784:Gene Amplification; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010958:Plasminogen / Q000172:deficiency / Q000235:genetics*; D017422:Sequence Analysis, DNA
D010958:Plasminogen