Factor VII Morioka (FVII L-26P): a homozygous missense mutation in the signal sequence identified in a patient with factor VII deficiency.
We investigated the molecular basis of factor VII deficiency in a Japanese patient and identified a novel missense mutation in the signal sequence of the gene. Factor VII activity and antigen level measured in the patient were 10.7% and 11% of normal, respectively. All exons except 1B and the 5'-flanking region containing promoter region were amplified by polymerase chain reaction (PCR) from genomic DNA. Sequencing analysis of the PCR fragments revealed that the patient was a homozygote for a T to C substitution at nucleotide position 38. This mutation predicts an amino acid replacement of leucine to proline at codon -26 in the hydrophobic core of the signal peptide, which probably affects translocation of the protein into endoplasmic reticulum and subsequently causes reduction in plasma factor VII level.
Ozawa
T
T
Department of Clinical Laboratory Medicine, Toyama Medical and Pharmaceutical University, Toyama City, Japan.
Takikawa
Y
Y
Niiya
K
K
Ejiri
N
N
Suzuki
K
K
Sato
S
S
Sakuragawa
N
N
D000368:Aged; D000369:Aged, 80 and over; D005167:Factor VII / Q000235:genetics*; D005168:Factor VII Deficiency / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D021382:Protein Sorting Signals / Q000235:genetics; D017422:Sequence Analysis, DNA
D021382:Protein Sorting Signals; D005167:Factor VII