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Search ...
Go!
Schema
>
EntityWithAccessionedSequence
>
Entries
SERPING1 A2_M53del [endoplasmic reticulum lumen]
Show undefined attributes
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candidateOf
[CandidateSet:R-HSA-9650455] Non-secretable SERPING1 variants [endoplasmic reticulum lumen] - Homo sapiens
compartment
[Compartment:17957] endoplasmic reticulum lumen
created
[InstanceEdit:9651389] Shamovsky, Veronica, 2019年06月25日
crossReference
[DatabaseIdentifier:11944961] Mondo:0007361
[DatabaseIdentifier:9674119] ClinVar:VCV000626353
dbId
9651435
disease
[Disease:9650398] C1 inhibitor deficiency
displayName
SERPING1 A2_M53del [endoplasmic reticulum lumen]
endCoordinate
500
hasModifiedResidue
[FragmentDeletionModification:9651392] Deletion of residues 1 to 52
inDisease
true
literatureReference
[LiteratureReference:9650328] Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency
[LiteratureReference:9650430] F12-46C/T polymorphism as modifier of the clinical phenotype of hereditary angioedema
maxDepth
1
modified
[InstanceEdit:9831580] Orlic-Milacic, Marija, 2023年03月22日
name
SERPING1 A2_M53del
C1Inh A2_M53del
plasma protease C1 inhibitor A2_M53del
C1-In A2_M53del
SERPING1 M1L
SERPING1 Met1Leu
referenceEntity
[ReferenceGeneProduct:uniprot:P05155] UniProt:P05155 SERPING1
referenceType
ReferenceGeneProduct
schemaClass
EntityWithAccessionedSequence
species
[Species:48887] Homo sapiens
stId
R-HSA-9651435
startCoordinate
53
summation
[Summation:9651436] The mutations in the SERPING1 ( c.1A>C (p.Met1Leu), c.1A>G (...
updateTrackers
[UpdateTracker:9905703] Update Tracker - [EntityWithAccessionedSequence:9651435] SERPING1 A2_M53del [endoplasmic reticulum lumen] - v85:[addName]
Referrals
(updatedInstance)
[UpdateTracker:9905703] Update Tracker - [EntityWithAccessionedSequence:9651435] SERPING1 A2_M53del [endoplasmic reticulum lumen] - v85:[addName]
(hasCandidate)
[CandidateSet:R-HSA-9650455] Non-secretable SERPING1 variants [endoplasmic reticulum lumen]
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