Extension of the Human Fibrinogen Database with Detailed Clinical Information-The αC-Connector Segment.

ABSTRACT: Fibrinogen, an abundant plasma glycoprotein, is involved in the final stage of blood coagulation. Decreased fibrinogen levels, which may be caused by mutations, are manifested mainly in bleeding and thrombotic disorders. Clinically relevant mutations of fibrinogen are listed in the Human Fibrinogen Database. For the αC-connector (amino acids Aα240-410, nascent chain numbering), we have extended this database, with detailed descriptions of the clinical manifestations among members of reported families. This includes the specification of bleeding and thrombotic events and results of coagulation assays. Where available, the impact of a mutation on clotting and fibrinolysis is reported. The collected data show that the Human Fibrinogen Database reports considerably fewer missense and synonymou

SUBMITTER: Sovova Z 

PROVIDER: S-EPMC8745514 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature