Novel Y283C mutation of the A subunit for coagulation factor XIII: molecular modelling predicts its impaired protein folding and dimer formation.
In an Italian patient with severe factor XIII deficiency, a novel mutation, Y283C (TAT to TGT), was identified heterozygously by nucleotide sequencing analysis in exon VII of the gene for the A subunit. The presence of this mutation was confirmed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis in the proband and his brother. Molecular modelling predicts that the mutant molecule would be misfolded. It is probable that the impaired folding of the mutant Y283C A subunit led to its instability, which is at least in part responsible for the factor XIII deficiency of this patient.
Souri
M
M
Department of Molecular Patho-Biochemistry and Patho-Biology, Yamagata University School of Medicine, Yamagata, Japan.
Yee
V C
VC
Kasai
K
K
Kaneshiro
T
T
Narasaki
K
K
Castaman
G
G
Ichinose
A
A
D002648:Child; D019281:Dimerization; D005176:Factor XIII / Q000737:chemistry / Q000235:genetics*; D005177:Factor XIII Deficiency / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008958:Models, Molecular; D009154:Mutation; D017510:Protein Folding
D005176:Factor XIII