rs281875176
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.700 |
GeneticVariation |
UNIPROT |
A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema.
|
8529136 |
1995 |
rs281875176
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.700 |
GeneticVariation |
UNIPROT |
Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.
|
7814636 |
1995 |
rs281875176
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema.
|
22994404 |
2012 |
rs281875176
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.700 |
GeneticVariation |
UNIPROT |
Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene.
|
2296585 |
1990 |
rs281875176
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations.
|
24456027 |
2014 |
rs281875176
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.700 |
GeneticVariation |
UNIPROT |
Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site.
|
2118657 |
1990 |
rs281875176
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.700 |
GeneticVariation |
UNIPROT |
Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations.
|
16409206 |
2006 |
rs281875176
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema.
|
8172583 |
1993 |
rs281875176
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.700 |
GeneticVariation |
UNIPROT |
A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu).
|
1451784 |
1992 |
rs281875176
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.700 |
GeneticVariation |
UNIPROT |
Dysfunctional C1-inhibitor(At), isolated from a type II hereditary-angio-oedema plasma, contains a P1 'reactive centre' (Arg444----His) mutation.
|
3178731 |
1988 |
rs281875176
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.700 |
GeneticVariation |
UNIPROT |
Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein.
|
7883978 |
1995 |
rs281875176
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.700 |
GeneticVariation |
UNIPROT |
Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.
|
8755917 |
1996 |
rs281875176
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.700 |
GeneticVariation |
UNIPROT |
The functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain, as revealed by a pathological mutant.
|
12773530 |
2003 |
rs281875176
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma.
|
2365061 |
1990 |
rs281875176
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.700 |
GeneticVariation |
UNIPROT |
C1 inhibitor hinge region mutations produce dysfunction by different mechanisms.
|
1363816 |
1992 |
rs281875176
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema.
|
14635117 |
2003 |