Reactome Pathway Database

Schema > EntityWithAccessionedSequence > Entries

SERPING1 A458T [extracellular region] Show undefined attributes

compartment

[Compartment:984] extracellular region

created [InstanceEdit:9650469] Shamovsky, Veronica, 2019年06月21日

crossReference

dbId 9650554

disease

[Disease:9650398] C1 inhibitor deficiency

displayName SERPING1 A458T [extracellular region]

endCoordinate 500

hasModifiedResidue

[ReplacedResidue:9650513] L-alanine 458 replaced with L-threonine

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

maxDepth 1

memberOf

[CandidateSet:R-HSA-9650491] HAE type 2-causing SERPING1 variants [extracellular region] - Homo sapiens

modified [InstanceEdit:9674110] Shamovsky, Veronica, 2020年01月10日

name

SERPING1 A458T
C1Inh R A458T
plasma protease C1 inhibitor A458T
C1-In A458T

referenceEntity [ReferenceGeneProduct:uniprot:P05155] UniProt:P05155 SERPING1

referenceType ReferenceGeneProduct

schemaClass EntityWithAccessionedSequence

species [Species:48887] Homo sapiens

stId R-HSA-9650554

startCoordinate 23

Referrals

(hasMember)

[CandidateSet:R-HSA-9650491] HAE type 2-causing SERPING1 variants [extracellular region]

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