rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.
|
7758520 |
1995 |
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
More than 95% of 242 cases reported so far are accounted for by a single Gly380Arg mutation.McKusick et al. proposed that achondroplasia and hypochondroplasia are allelic based on the similarities in phenotype between the two disorders and the identification of a severely dwarfed individual whose father had achondroplasia and whose mother had hypochondroplasia.
|
7670477 |
1995 |
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
We report on a newborn with achondroplasia who does not carry a G380R mutation but has a mutation causing substitution of a nearby glycine with a cysteine (G375C).
|
7758520 |
1995 |
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
In an analysis of 19 achondroplasia families from a variety of ethnic backgrounds we confirmed the presence of the G380R mutation in 21 of 23 achondroplasia chromosomes studied.
|
7702086 |
1995 |
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
|
8078586 |
1994 |
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Here we report the finding of recurrent missense mutations in a CpG doublet of the transmembrane domain of the FGFR3 protein (glycine substituted with arginine at residue 380, G380R) in 17 sporadic cases and 6 unrelated familial forms of achondroplasia.
|
8078586 |
1994 |
rs28931614
|
|
Achondroplasia
|
A |
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
rs28931614
|
|
Achondroplasia
|
C |
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
rs75790268
|
|
Achondroplasia
|
|
0.850 |
GeneticVariation
|
BEFREE |
Two mutations in FGFR3, G380R and G375C are known to cause achondroplasia, the most common form of human dwarfism.
|
22529939 |
2012 |
rs75790268
|
|
Achondroplasia
|
|
0.850 |
GeneticVariation
|
UNIPROT |
FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation.
|
12297284 |
2002 |
rs75790268
|
|
Achondroplasia
|
|
0.850 |
GeneticVariation
|
BEFREE |
We examined the G380R mutation (G > A and G > C transition) and the mutation G375C (G > T transition at codon 375) in 31 sporadic patients and in one family diagnosed clinically to have achondroplasia.
|
10979354 |
2000 |
rs75790268
|
|
Achondroplasia
|
|
0.850 |
GeneticVariation
|
UNIPROT |
The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation.
|
10611230 |
2000 |
rs75790268
|
|
Achondroplasia
|
|
0.850 |
GeneticVariation
|
BEFREE |
Here we show that a glycine-to-cysteine substitution at position 375 (Gly375Cys) in human FGFR3 causes ligand-independent dimerization and phosphorylation of FGFR3 and that the equivalent substitution at position 369 (Gly369Cys) in mouse FGFR3 causes dwarfism with features mimicking human achondroplasia.
|
10587515 |
1999 |
rs75790268
|
|
Achondroplasia
|
|
0.850 |
GeneticVariation
|
BEFREE |
Chimeras of the native form or achondroplasia mutant (G375C) of human fibroblast growth factor receptor 3 induce ligand-dependent differentiation of PC12 cells.
|
9199352 |
1997 |
rs75790268
|
|
Achondroplasia
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia.
|
8599935 |
1996 |
rs75790268
|
|
Achondroplasia
|
|
0.850 |
GeneticVariation
|
UNIPROT |
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.
|
7758520 |
1995 |
rs75790268
|
|
Achondroplasia
|
|
0.850 |
GeneticVariation
|
BEFREE |
We report on a newborn with achondroplasia who does not carry a G380R mutation but has a mutation causing substitution of a nearby glycine with a cysteine (G375C).
|
7758520 |
1995 |
rs75790268
|
|
Achondroplasia
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
|
7847369 |
1995 |
rs75790268
|
|
Achondroplasia
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
|
8078586 |
1994 |
rs75790268
|
|
Achondroplasia
|
T |
0.850 |
CausalMutation
|
CLINVAR |
|
|
|
rs121913105
|
|
Achondroplasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation.
|
12297284 |
2002 |
rs121913105
|
|
Achondroplasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation.
|
10611230 |
2000 |
rs121913105
|
|
Achondroplasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia.
|
8599935 |
1996 |
rs121913105
|
|
Achondroplasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.
|
7758520 |
1995 |
rs121913105
|
|
Achondroplasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
|
7847369 |
1995 |