Reactome | HAE type 2-causing SERPING1 variants [extracellular region]

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HAE type 2-causing SERPING1 variants [extracellular region] Show undefined attributes

compartment	[Compartment:984] extracellular region
consumedByEvent	[FailedReaction:R-HSA-9651467] SERPING1 variant does not bind kallikrein - Homo sapiens [FailedReaction:R-HSA-9651456] SERPING1 variant does not bind factor XIIa - Homo sapiens
created	[InstanceEdit:9650469] Shamovsky, Veronica, 2019-06-21
crossReference	[DatabaseIdentifier:12020817] Mondo:0007361
dbId	9650491
disease	[Disease:9650398] C1 inhibitor deficiency
displayName	HAE type 2-causing SERPING1 variants [extracellular region]
hasCandidate	[EntityWithAccessionedSequence:R-HSA-9650562] SERPING1 T467P [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9650561] SERPING1 G493R [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9651433] SERPING1 D84_T138del [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9651434] SERPING1 L273del [extracellular region] - Homo sapiens
hasMember	[EntityWithAccessionedSequence:R-HSA-9650553] SERPING1 R466C [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9650560] SERPING1 R466H [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9650436] SERPING1 R466L [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9650572] SERPING1 R466S [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9650554] SERPING1 A458T [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9650402] SERPING1 A458V [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9650568] SERPING1 P498S [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9650446] SERPING1 I462S [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9650569] SERPING1 A456E [extracellular region] - Homo sapiens
inDisease	true
literatureReference	[LiteratureReference:9650312] Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene [LiteratureReference:9650449] Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function [LiteratureReference:9650467] A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu) [LiteratureReference:9650476] CpG mutations in the reactive site of human C1 inhibitor [LiteratureReference:9650531] Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma [LiteratureReference:9650515] A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema [LiteratureReference:9650370] 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 [LiteratureReference:9651414] The functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain, as revealed by a pathological mutant [LiteratureReference:9651430] Characterization of C1 inhibitor-Ta. A dysfunctional C1INH with deletion of lysine 251
maxDepth	2
modified	[InstanceEdit:9676354] Shamovsky, Veronica, 2020-02-13
name	HAE type 2-causing SERPING1 variants
schemaClass	CandidateSet
species	[Species:48887] Homo sapiens
stId	R-HSA-9650491

Referrals

(input)	[FailedReaction:R-HSA-9651467] SERPING1 variant does not bind kallikrein [FailedReaction:R-HSA-9651456] SERPING1 variant does not bind factor XIIa
(diseaseEntity)	[EntityFunctionalStatus:9650320] loss_of_function of HAE type 2-causing SERPING1 variants [extracellular region]

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