(Q100153879)

English

SERPING1 variant does not bind factor XIIa

An instance of the biological reaction in Homo sapiens with Reactome ID (R-HSA-9651456)

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1 reference

8 July 2022

Defective SERPING1 causes hereditary angioedema

1 reference

8 July 2022

1 reference

8 July 2022

https://identifiers.org/reactome:R-HSA-9651456

1 reference

8 July 2022

factor XIIa [extracellular region]

quantity

1

value of statement has role

1 reference

8 July 2022

HAE type 2-causing SERPING1 variants [extracellular region]

quantity

1

value of statement has role

1 reference

8 July 2022

High-molecular-weight kininogen cleavage correlates with disease states in the bradykinin-mediated angioedema due to hereditary C1-inhibitor deficiency

1 reference

8 July 2022

Hereditary angioedema: the plasma contact system out of control

1 reference

8 July 2022

A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu).

1 reference

8 July 2022

A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema

1 reference

8 July 2022

Characterization of C1 inhibitor-Ta. A dysfunctional C1INH with deletion of lysine 251

1 reference

8 July 2022

CpG mutations in the reactive site of human C1 inhibitor

1 reference

8 July 2022

Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function

1 reference

8 July 2022

Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene

1 reference

8 July 2022

Substrate properties of C1 inhibitor Ma (alanine 434----glutamic acid). Genetic and structural evidence suggesting that the P12-region contains critical determinants of serine protease inhibitor/substrate status

1 reference

8 July 2022

The functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain, as revealed by a pathological mutant.

1 reference

8 July 2022

Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma

1 reference

8 July 2022

Identifiers

1 reference

8 July 2022

(Q100153879)

SERPING1 variant does not bind factor XIIa

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