rs28931614
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Achondroplasia
|
A |
0.900 |
CausalMutation
|
CLINVAR |
|
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rs28931614
|
|
Achondroplasia
|
C |
0.900 |
CausalMutation
|
CLINVAR |
|
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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 |
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
|
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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 |
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
|
UNIPROT |
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
|
7847369 |
1995 |
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
|
8078586 |
1994 |
rs28931614
|
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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
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia.
|
8599935 |
1996 |
rs28931614
|
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Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Our results support the argument that the G380R mutation of FGFR-3 is the most frequent mutation causing achondroplasia across different populations.
|
8682509 |
1996 |
rs28931614
|
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Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
We report here recurrent missense mutations, in a CpG doublet of the transmembrane domain of the FGFR3 protein (G380R) in 17 sporadic cases and 6 unrelated familial forms of ACH and show that the mutant genotype segregates with the disease in these families.
|
8742128 |
1996 |
rs28931614
|
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Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Achondroplasia in Sweden caused by the G1138A mutation in FGFR3.
|
9001669 |
1996 |
rs28931614
|
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Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
The mapping of the achondroplasia locus to the short arm of chromosome 4 and the subsequent identification of a recurrent missense mutation (Gly380Arg) in the gene encoding fibroblast growth factor receptor 3 (FGFR-3) has been followed by the detection of common FGFR-3 mutations in two clinically related disorders: thanatophoric dysplasia (TD; types I and II) and hypochondroplasia.
|
9055906 |
1996 |
rs28931614
|
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Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
The vast majority of patients with achondroplasia have a G-->A substitution at position 1138 of the fibroblast growth factor receptor (FGFR3) cDNA sequence, resulting in the substitution of an arginine for a glycine residue at position 380 of the FGFR3 protein.
|
9401015 |
1997 |
rs28931614
|
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Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
More than 97% of achondroplasia cases are caused by one of two mutations (G1138A and G1138C) in the fibroblast growth factor receptor 3 (FGFR3) gene, which results in a specific amino acid substitution, G380R.
|
9718331 |
1998 |
rs28931614
|
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Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Molecular testing showed both the G1138A and the C1620G mutations in FGFR3, confirming the diagnosis of achondroplasia-hypochondroplasia complex.
|
10360392 |
1999 |
rs28931614
|
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Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
The mother has achondroplasia and carries the common G1138 (G380R) mutation in the FGFR3 gene; the father has hypochondroplasia due to the C1620A (N540K) mutation in the same gene.
|
10360393 |
1999 |
rs28931614
|
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Achondroplasia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation.
|
10611230 |
2000 |
rs28931614
|
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Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Since the Gly380Arg achondroplasia mutation was recognized, similar observations regarding the conserved nature of FGFR mutations and resulting phenotype have been made regarding other skeletal phenotypes, including hypochondroplasia, thanatophoric dysplasia, and Muenke coronal craniosynostosis.
|
10696568 |
2000 |
rs28931614
|
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Achondroplasia
|
|
0.900 |
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 |
rs28931614
|
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Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
A mouse model for achondroplasia was generated by introducing the human mutation (glycine 380-arginine) into the mouse fibroblast growth factor receptor 3 (G374R) by a "knock-in" approach using gene targeting leading to a constitutively active receptor.
|
11518810 |
2001 |
rs28931614
|
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Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead' mutant of fibroblast growth factor receptor 3 (FGFR3) with that of its naturally occurring overactive mutants, G380R as in achondroplasia, or K650E involved in thanatophoric dysplasia.
|
12297284 |
2002 |
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation.
|
12297284 |
2002 |
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Achondroplasia was due to the G380R FGF3R mutation and hypochondroplasia to a N540K mutation in the same gene.
|
12476453 |
2003 |