Table 1.
Mutation profiles, laboratory, and clinical data of for patients with PC deficiency.
Figure 1.
Multiple sequence alignment highlighting the affected amino acids among selected species.
The conservation degree of the affected amino acids was evaluated in sequences from Homo sapiens (NP_000303.1), Bos taurus (NP_001159984.1), Canis lupus familiaris (NP_001013871.1), Gallus gallus (NP_989772.1), Mus musculus (NP_032960.3), Pan troglodytes (XP_515775.3), and Rattus norvegicus (NP_036935.1).
Figure 2.
Structure models of the wild-type and mutant PC proteins.
The amino acid number was designated according to the previous nomenclature described in the Human Gene Mutation Database. That is, the first 42 amino acids (signal peptide) is subtracted. The wild-type amino acids are shown in yellow and the mutants are shown in red. The D255H and the E285V mutations are also displayed in a solid surface model (G, H) in which the electrostatic potential is clearly indicated.
Figure 3.
PROC c.565C>T variant detection by PCR-RFLP and direct sequencing.
(A) Electrophoretic patterns following Hin6 I digestion. PCR products were 173 bp. Only amplicons with the wild-type sequences were digested, yielding two bands of 143 bp and 30 bp. The digestion products were separated by 2% agarose gel electrophoresis. M, DNA marker with 50-bp ladder. Lanes 1, 2, and 4–6, normal individuals. Lane 3, heterozygous individual for the variant. (B) Chromatograms obtained by sequencing. Left, wild-type; Right, heterozygote.
Table 2.
Data from participants enrolled in the secondary case-control study.
Table 3.
Association between the PROC c.565C>T and venous thrombosis in the Chinese population.
Table 4.
Family analysis of thrombotic risk in c.565C>T carriers and non-carriers.
Figure 4.
Plasma protein C level of the PROC c.565C>T heterozygous subjects and normal individuals.
The mean, median, interquartile range, and range of protein C levels (activity and antigen) are shown. Gray box, C/T genotype (n = 17). White box, C/C wild-type (n = 20).