Table 1Phenotypes of protein C and protein S mutations

Clinical presentation
Phenotypes of compound heterozygous and homozygous protein C mutations
Compound heterozygous
Arg 1 His Arg 178 GlnThrombophilia67
Gla 26 Lys Δ 10758 G, frameshiftNeonatal purpura fulminans68
Cys 78 Stop Asn 329 ThrDeep venous thrombosis after oral contraceptive treatment69
Tyr 124 Cys Gln 132 StopNeonatal purpura fulminans70
Arg 178 Gln Cys 331 ArgThrombophilia71
Leu 223 Phe Ile 403 MetThrombophilia72
Gly 376 AspΔ CCCGC in exon 6, frameshift Neonatal purpura fulminans73
3351 Δ 4, 3350 insA, Asn 102 Lys, Δ Gly 103Neonatal purpura fulminans74
Ala 136 ProThrombophilia75
Gln 184 His Neonatal purpura fulminans76
His 202 Tyr combined with Ala 346 ThrNeonatal purpura fulminans77
Pro 247 Leu Thrombophilia78
Arg 286 His Thrombophilia75
Gly 292 SerThrombophilia79
Val 325 AlaNeonatal purpura fulminans80
Δ 8857 G, frameshiftNeonatal purpura fulminans81
Phenotypes of heterozygous and homozygous protein S mutations
Compound heterozygous
A insertion in A5 tract, frameshift Arg 410 StopNeonatal purpura fulminans82
Δ A, codon 43, frameshiftNeonatal purpura fulminans83

From: Genetic Risk Factors for Disseminated Intravascular Coagulation

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