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NM_000062.3(SERPING1):c.1361T>A (p.Val454Glu) AND Hereditary C1 esterase inhibitor deficiency - dysfunctional factor

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 1992
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000004159.4

Allele description [Variation Report for NM_000062.3(SERPING1):c.1361T>A (p.Val454Glu)]

NM_000062.3(SERPING1):c.1361T>A (p.Val454Glu)

Gene:
SERPING1:serpin family G member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q12.1
Genomic location:
Preferred name:
NM_000062.3(SERPING1):c.1361T>A (p.Val454Glu)
Other names:
V432E
HGVS:
  • NC_000011.10:g.57614439T>A
  • NG_009625.1:g.21886T>A
  • NM_000062.3:c.1361T>AMANE SELECT
  • NM_001032295.2:c.1361T>A
  • NP_000053.2:p.Val454Glu
  • NP_001027466.1:p.Val454Glu
  • LRG_105:g.21886T>A
  • NC_000011.9:g.57381912T>A
  • P05155:p.Val454Glu
Protein change:
V454E; VAL432GLU
Links:
UniProtKB: P05155#VAR_007014; OMIM: 606860.0010; dbSNP: rs121907949
NCBI 1000 Genomes Browser:
rs121907949
Molecular consequence:
  • NM_000062.3:c.1361T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001032295.2:c.1361T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor (HAE2)
Synonyms:
Hereditary angioedema, type II
Identifiers:
MONDO: MONDO:0015054; MedGen: C0398776

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000024325OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 1992) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

C1 inhibitor hinge region mutations produce dysfunction by different mechanisms.

Davis AE 3rd, Aulak K, Parad RB, Stecklein HP, Eldering E, Hack CE, Kramer J, Strunk RC, Bissler J, Rosen FS.

Nat Genet. 1992 Aug;1(5):354-8.

PubMed [citation]
PMID:
1363816

Details of each submission

From OMIM, SCV000024325.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with hereditary angioedema-2 (HAE2; 106100) who was heterozygous for a mutant dysfunctional C1 inhibitor protein, Davis et al. (1992) identified a 'hinge' region mutation in C1 inhibitor: an A to T substitution at position 1396 producing a val-to-glu replacement at residue 432. Recombinant C1 inhibitor with the val432-to-glu mutation did not form stable complexes with fluid phase C1s or kallikrein. The val432-to-glu mutant form was cleaved to a 96-K form by C1s. Thus the mutation results in dysfunction, converting the inhibitor to a substrate. Davis et al. (1992) demonstrated that this mutation and the ala436-to-thr mutation (606860.0002) result in dysfunction by different mechanisms.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022