|
rs118204094
|
|
|
0.830 |
GeneticVariation |
BEFREE |
This common R116W haplotype based on 7 SNPs strongly suggests that the relatively high frequency of the R116W mutation in Dutch AIP patients is due a founder effect (eldest parent in pedigree was born in 1750!!).
|
19656453 |
2009 |
|
rs118204094
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W.
|
14757946 |
2004 |
|
rs118204094
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Most AIP mutations were private; however, certain mutations were frequently found in Dutch (R116W) and Swedish (W198X) AIP families.
|
7866402 |
1994 |
|
rs118204095
|
|
|
0.810 |
GeneticVariation |
BEFREE |
To investigate the dramatically different manifestations, knock-in mice with human HD-AIP missense mutations c.500G>A (p.Arg167Glu) or c.518_519GC>AG (p.Arg173Glu), designated R167Q or R173Q mice, respectively, were generated and compared with the previously established T1/T2 mice with ~30% residual HMBS activity and the heterozygous AIP phenotype.
|
30615115 |
2019 |
|
rs536814318
|
|
|
0.810 |
GeneticVariation |
BEFREE |
However, the diagnosis of AIP was established on the basis of a 64% reduction in erythrocyte hydroxymethylbilane synthase (HMBS) activity and the finding of a known causative AIP mutation (p.D178N).
|
19267997 |
2009 |
|
rs575222284
|
|
|
0.730 |
GeneticVariation |
BEFREE |
These results reinforce the hypothesis that the R173W mutation may have a high biochemical and clinical penetrance among AIP patients.
|
16817012 |
2006 |
|
rs118204117
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Twelve of the 21 index patients (57%) carried the prevalent mutation W283X previously found among the Swiss AIP population.
|
11591889 |
2001 |
|
rs118204117
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria.
|
10782018 |
2000 |
|
rs575222284
|
|
|
0.730 |
GeneticVariation |
BEFREE |
The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study.
|
11202057 |
2000 |
|
rs575222284
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian "foreign Protestant" population with acute intermittent porphyria: a founder effect.
|
9455613 |
1997 |
|
rs118204117
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Molecular analyses of unrelated AIP patients revealed six exonic mutations: an initiating methionine to isoleucine substitution (M1I) in a patient with variant AIP, which precluded translation of the housekeeping, but not the erythroid-specific isozyme; four missense mutations in classical AIP patients, V93F, R116W, R201W, C247F; and a nonsense mutation W283X in a classical AIP patient, which truncated the housekeeping and erythroid-specific isozymes.
|
7962538 |
1994 |
|
rs118204101
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Mutations R167W and R225G resulted in milder biochemical abnormalities and clinical symptoms indicating a milder form of AIP in these patients.
|
15643298 |
2005 |
|
rs118204100
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study.
|
11202057 |
2000 |
|
rs118204101
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study.
|
11202057 |
2000 |
|
rs118204100
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Most AIP mutations were private; however, certain mutations were frequently found in Dutch (R116W) and Swedish (W198X) AIP families.
|
7866402 |
1994 |
|
rs1205219549
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.
|
23815679 |
2013 |
|
rs761004837
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The association between the T59I substitution and AIP is less obvious.
|
18406650 |
2008 |
|
rs974712040
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M).
|
11013452 |
2000 |
|
rs118204107
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.
|
10494093 |
1999 |
|
rs1261947877
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Three splicing defects (IVS1+3G-->T, 86A-->T, IVS13-2A-->G), an insertion (416insCA), and two missense mutations (664G-->A and 833T-->G) in the porphobilinogen deaminase (PBGD) gene were identified in six unrelated Finnish patients with acute intermittent porphyria (AIP).
|
9654202 |
1998 |
|
rs551209435
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.
|
23815679 |
2013 |
|
rs780020705
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In three lines, the phenotype was an autosomal dominant trait, while affected cats with the c.250G>A (p.A84T) mutation were homozygous, a unique recessive form of AIP.
|
19934113 |
2010 |
|
rs369855221
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, changes in K(m), V(max) and thermostability observed in the recombinant V215M suggest a causal relationship between V215M and AIP.
|
18406650 |
2008 |
|
rs757988130
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using denaturing-gradient gel electrophoresis (DGGE) and direct sequencing we characterized six different mutations, including four novel, from the seven AIP families: three splicing defects (IVS 5+2 Ins G; IVS 7+1 G to A in two families; IVS 10-1 G to T); a small deletion (1004 Del G); and two missense mutations (R116 W; A270G).
|
11030413 |
2000 |
|
rs1325031228
|
|
|
0.010 |
GeneticVariation |
BEFREE |
By direct solid-phase sequencing, two mutations causing AIP were identified, an adenine deletion at position 629 in exon 11(629delA), which alters the reading frame and predicts premature truncation of the enzyme protein after amino acid 255, and a nonsense mutation in exon 12 (R225X).
|
8533808 |
1995 |