Factor XI deficiency with a novel homozygous mutation Trp599Arg near the C-terminal region.
We identified a novel mutation in an asymptomatic 72-year old Japanese woman with severe factor XI (FXI) deficiency. Sequence analysis showed a homozygous missense mutation Trp599Arg (g.234T-->C according to Genbank accession number M20218). This residue belongs to a region conserved in human FXI and the FXI of several animals. Molecular modeling showed that the Trp599 residue is positioned in an alpha helix in the C-terminal region of the FXI molecule.
Takamiya
Osamu
O
Machida
Shinichiro
S
Yamamoto
Manabu
M
D000368:Aged; D000595:Amino Acid Sequence; D000818:Animals; D001120:Arginine / Q000235:genetics*; D005173:Factor XI Deficiency / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D017433:Protein Structure, Secondary; D017434:Protein Structure, Tertiary; D017386:Sequence Homology, Amino Acid; D014364:Tryptophan / Q000235:genetics*
D014364:Tryptophan; D001120:Arginine