Title : Antithrombin Dublin (p.Val30Glu): a relatively common variant with moderate thrombosis risk of causing transient antithrombin deficiency.

Pub. Date : 2016 Jul 4

PMID : 27098529






2 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 In conclusion, p.Val30Glu by affecting the cleavage of antithrombin"s signal peptide, results in a mature protein lacking the N-terminal dipeptide with no functional consequences in normal conditions, but that increases the sensitivity to be folded intracellularly into polymers, facilitating transient antithrombin deficiency and the subsequent risk of thrombosis. Dipeptides serpin family C member 1 Homo sapiens
2 In conclusion, p.Val30Glu by affecting the cleavage of antithrombin"s signal peptide, results in a mature protein lacking the N-terminal dipeptide with no functional consequences in normal conditions, but that increases the sensitivity to be folded intracellularly into polymers, facilitating transient antithrombin deficiency and the subsequent risk of thrombosis. Dipeptides serpin family C member 1 Homo sapiens