ProCMD: a database and 3D web resource for protein C mutants

D’Ursi, Pasqualina; Marino, Francesca; Caprera, Andrea; Milanesi, Luciano; Faioni, Elena M.; Rovida, Ermanna

doi:10.1186/1471-2105-8-s1-s11

Cited by 30 publications

(21 citation statements)

References 17 publications

(20 reference statements)

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“…Hereditary PC deficiency has an autosomal dominant mode of inheritance, but many reports also claimed autosomal recessive mode (Mohanty et al, 1995;Ehsan & Plumbley, 2002;Bereczky et al, 2010). Almost 250 different genetic defects have been reported so far to be associated with PC deficiency (Bertina, 1997;D'Ursi et al, 2007;Bereczky et al, 2010). The prevalence of PC deficiency has been reported to be one in 200 to 16,000 normal individuals in different studies (Miletich et al, 1987;Tait et al, 1995;Mohanty et al, 1995;Koster et al, 1995b;Ehsan & Plumbley, 2002).…”

Section: Protein C (Pc) Deficiencymentioning

confidence: 99%

Aetiology of Venous Thrombosis

Jadaon¹

2012

Venous Thrombosis - Principles and Practice

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Section: Protein C (Pc) Deficiencymentioning

confidence: 99%

Aetiology of Venous Thrombosis

Jadaon¹

2012

Venous Thrombosis - Principles and Practice

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“…(Figure 1). A recently developed mutation database, ProCMD, is an interactive tool that contains phenotypic descriptions with functional and structural data obtained by molecular modeling (47).…”

Section: Molecular Genetic Background Of Protein C and S Deficiency mentioning

confidence: 99%

Protein C and protein S deficiencies: similarities and differences between two brothers playing in the same game

Bereczky

Kovács

Muszbek

2010

Clinical Chemistry and Laboratory Medicine

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Protein C (PC) and protein S (PS) are vitamin K-dependent glycoproteins that play an important role in the regulation of blood coagulation as natural anticoagulants. PC is activated by thrombin and the resulting activated PC (APC) inactivates membrane-bound activated factor VIII and factor V. The free form of PS is an important cofactor of APC. Deficiencies in these proteins lead to an increased risk of venous thromboembolism; a few reports have also associated these deficiencies with arterial diseases. The degree of risk and the prevalence of PC and PS deficiency among patients with thrombosis and in those in the general population have been examined by several population studies with conflicting results, primarily due to methodological variability. The molecular genetic background of PC and PS deficiencies is heterogeneous. Most of the mutations cause type I deficiency (quantitative disorder). Type II deficiency (dysfunctional molecule) is diagnosed in approximately 5%-15% of cases. The diagnosis of PC and PS deficiencies is challenging; functional tests are influenced by several pre-analytical and analytical factors, and the diagnosis using molecular genetics also has special difficulties. Large gene segment deletions often remain undetected by DNA sequencing methods. The presence of the PS pseudogene makes genetic diagnosis even more complicated. Clin Chem Lab Med 2010;48:S53-66.

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“…To date, over 300 mutations have been reported. 11 Studies of PC mutations found significant differences regarding the ethnic background. For example, the p.R230C, p.Q132stop, p.R306stop, and c.3363insC mutations were commonly found in Caucasian populations, 12,13 whereas p.R147W, the c.C6152T in exon 7, causing a change in amino acid from arginine to tryptophan, was a common mutation among Taiwanese Chinese.…”

Section: Introductionmentioning

confidence: 99%

R147W in PROC Gene Is a Risk Factor of Thromboembolism in Thai Children

Sirachainan

Chuansumrit

Sasanakul

et al. 2017

Clin Appl Thromb Hemost

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The p.R147W mutation, the c.C6152T in exon 7, causing a change in amino acid from arginine to tryptophan of the PROC gene has been reported as a common mutation in Taiwanese populations with venous thromboembolism (VTE). The present study aimed to identify the prevalence of p.R147W in the Thai population and children with TE and the risk of developing TE. Patients aged 18 years diagnosed with TE were enrolled. The PROC gene was amplified by polymerase chain reaction using a specific primer in exon 7. The restriction fragment length polymorphism was designed using MwoI restriction enzyme. A total of 184 patients and 690 controls were enrolled. The most common diagnosis of TE was arterial ischemic stroke (AIS), at 100 (54.3%), followed by VTE, at 38 (20.6%), and cerebral venous sinus thrombosis (CVST), at 23 (12.5%). The prevalence of heterozygous and homozygous p.R147W in patients and controls was 9.5% versus 5.8% and 2.7% versus 0.1%, respectively. Heterozygous p.R147W had odds ratios (ORs) of 1.8 (95% confidence interval [CI]: 1.0-3.2, P ¼ .04), 3.2 (95% CI: 1.2-8.2, P ¼ .009), and 4.5 (95% CI: 1.6-12.8, P ¼ .002) of developing overall TE, VTE, and CVST, respectively. Homozygous p.R147W had ORs of 20.2 (95% CI: 2.3-173.7, P < .001), 21.4 (95% CI: 2.2-207.9, P < .001), and 43.3 (95% CI: 3.8-490.6, P < .001) of developing overall TE, AIS, and CVST, respectively. This study suggested that p.R147W is a common mutation and increased risk of TE in Thai children.

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ProCMD: a database and 3D web resource for protein C mutants

Cited by 30 publications

References 17 publications

Aetiology of Venous Thrombosis

Aetiology of Venous Thrombosis

Protein C and protein S deficiencies: similarities and differences between two brothers playing in the same game

R147W in PROC Gene Is a Risk Factor of Thromboembolism in Thai Children

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