A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis.
A heterozygous CGG-->TGG (Arg 15-->Trp) substitution was detected in a family with inherited type II protein C deficiency and recurrent venous thrombosis. The mutation, which co-segregates with the deficiency state, occurs in a conserved pentapeptide within the gamma-carboxyglutamic acid (Gla) domain of the protein.
Millar
D S
DS
Charter Molecular Genetics Laboratory, Chelsea, London, UK.
Grundy
C B
CB
Bignell
P
P
Moffat
E H
EH
Martin
R
R
Kakkar
V V
VV
Cooper
D N
DN
D015055:1-Carboxyglutamic Acid / Q000737:chemistry; D001120:Arginine; D001483:Base Sequence; D017124:Conserved Sequence; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency; D012008:Recurrence; D013927:Thrombosis / Q000209:etiology / Q000235:genetics*; D014364:Tryptophan
D011486:Protein C; D015055:1-Carboxyglutamic Acid; D014364:Tryptophan; D001120:Arginine