|
CONE DYSTROPHY 3 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.
|
19459154 |
2009 |
|
CONE DYSTROPHY 3 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD).
|
15790869 |
2005 |
|
CONE DYSTROPHY 3 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A).
|
15735604 |
2005 |
|
CONE DYSTROPHY 3 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration.
|
15505030 |
2004 |
|
CONE DYSTROPHY 3 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1.
|
11146732 |
2001 |
|
CONE DYSTROPHY 3 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy.
|
11484154 |
2001 |
|
CONE DYSTROPHY 3 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease(1).
|
11108966 |
2000 |
|
CONE DYSTROPHY 3 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.
|
9425234 |
1998 |
|
CONE DYSTROPHY 3 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Macular dystrophy
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.
|
9425234 |
1998 |
|
Retinitis Pigmentosa
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.
|
9425234 |
1998 |
|
RETINAL CONE DYSTROPHY 1
|
|
0.030 |
GeneticVariation
|
BEFREE |
Here, detailed analysis of biochemical properties of GCAP1(P50L), which causes a milder form of autosomal dominant cone dystrophy than constitutive active Y99C mutation, showed that the P50L mutation resulted in a decrease of Ca(2+)-binding, without changes in the GC activity profile of the mutant GCAP1.
|
11108966 |
2000 |
|
RETINAL CONE DYSTROPHY 1
|
|
0.030 |
GeneticVariation
|
BEFREE |
We report a mutation (Y99C) in guanylate cyclase activator 1A (GUCA1A), the gene for guanylate cyclase activating protein (GCAP1), in a family with autosomal dominant cone dystrophy.
|
9425234 |
1998 |
|
RETINAL CONE DYSTROPHY 1
|
|
0.030 |
GeneticVariation
|
BEFREE |
GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy.
|
9702199 |
1998 |
|
Progressive Cone Dystrophy
|
|
0.010 |
GeneticVariation
|
BEFREE |
The Tyr99Cys GUCA1A mutation has been previously shown to cause autosomal dominant progressive cone dystrophy.
|
15953638 |
2005 |