Ile73Asn mutation in protein C introduces a new N-linked glycosylation site on the first EGF-domain of protein C and causes thrombosis.
Journal
Haematologica
ISSN: 1592-8721
Titre abrégé: Haematologica
Pays: Italy
ID NLM: 0417435
Informations de publication
Date de publication:
06 2020
06 2020
Historique:
received:
15
05
2019
accepted:
07
08
2019
pubmed:
11
8
2019
medline:
28
4
2021
entrez:
11
8
2019
Statut:
ppublish
Résumé
Activated protein C exerts its anticoagulant activity by protein S-dependent inactivation of factors Va and VIIIa by limited proteolysis. We identified a venous thrombosis patient who has plasma protein C antigen level of 63% and activity levels of 44% and 23%, as monitored by chromogenic and clotting assays. Genetic analysis revealed the proband carries compound heterozygous mutations (c.344T>A, p.I73N and c.1181G>A, p.R352Q) in
Identifiants
pubmed: 31399531
pii: haematol.2019.227033
doi: 10.3324/haematol.2019.227033
pmc: PMC7271577
doi:
Substances chimiques
Protein C
0
Epidermal Growth Factor
62229-50-9
Thrombin
EC 3.4.21.5
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1712-1722Subventions
Organisme : NHLBI NIH HHS
ID : R01 HL062565
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL101917
Pays : United States
Informations de copyright
Copyright© 2020 Ferrata Storti Foundation.
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