Table 1.
Coded protein | Gene | Chromosome location | Studied SNPs | Change at DNA level | Change at Amino acid level |
---|---|---|---|---|---|
Blood coagulation Factor V | FV | Chromosome 1 (1q24.2) | rs 6025 (FVLeiden) | G1691A (R506Q) | Arg506Gln |
rs1800595 (FV HR2) | A4070G | His1299Arg | |||
Blood coagulation Factor II (Prothrombin) | FII | Chromosome 11 (11p11.2) | rs1799963 | G20210A | N/A |
5, 10 Methylene tetrahydrofolate Reductase | MTHFR | Chromosome 1 (1p36.22) | rs1801133 | C677T | Ala 222 Val |
rs1801131 | A1298C | Glu429Ala | |||
Blood coagulation Factor XIII | F XIII A1 | Chromosome 6 (6p25.1) | rs 5985 | G103T | Val 34 Leu |
Plasminogen Activator Inhibitor 1 (PAI-1) | Serpine1 | Chromosome 7 (7q22.1) | rs1799762 | 4G/5G 1-bp guanine deletion/insertion (4G/5G) in the promoter region |
N/A |
Endothelial Protein C Receptor (EPCR): | EPCR (PROCR) | Chromosome 20 (20q11.22) | |||
Haplotype 1 (A1) | rs 9574 | G4678C | N/A | ||
Haplotype 3 (A3) | rs 867186 | A4600G | Ser219Gly |
N/A: No available data.