rs28931614
|
|
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
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
2 chorionic villi samples had a G380R mutation due to a mother with ACH; 4 amniotic fluid samples with TDs in which the foetuses had micromelia plus hypoplastic thoraces; 5 samples from abortuses with TDs.
|
19789973 |
2009 |
rs28931614
|
|
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
|
|
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 germ-line tissues, the G1138A mutation results in achondroplasia and has one of the highest spontaneous mutation rates in the human genome.
|
19551630 |
2009 |
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
The G380R mutation in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) causes achondroplasia, the most common form of human dwarfism.
|
21324899 |
2011 |
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
The G380R mutation in FGFR3 transmembrane domain is known as the genetic cause for achondroplasia, the most common form of human dwarfism.
|
20624921 |
2010 |
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
A 2-year-old boy with clinical features consistent with achondroplasia and Silver-Russell syndrome-like symptoms was found to carry a mutation in the fibroblast growth factor receptor-3 (FGFR3) gene at c.1138G > A (p.Gly380Arg) and a de novo 574 kb duplication at chromosome 7p12.1 that involved the entire growth-factor receptor bound protein 10 (GRB10) gene.
|
27370225 |
2016 |
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
|
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
|
|
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
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
The assay has been tested in 50 healthy controls, 3 known patients with achondroplasia, and 5 amniotic fluids suspected of having achondroplasia and for whom we had previously determined the genotypes for the c.1138G>A mutation by PCR-RFLP.
|
17683901 |
2008 |
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Although 98% of ACH cases are accounted for by a single G380R substitution in the TM, a common mutation (N540K) in the TK1 region is detected in only 60-65% of HCH cases.
|
16912704 |
2006 |
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Furthermore, a G380R mutation in FGFR3 (FGFR3(Ach)), which results in achondroplasia, induces apoptosis in the chondrogenic cell line ATDC5.
|
17466614 |
2007 |
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
The most common mutation for achondroplasia (FGFR3 Gly380Arg, resulting in 1138G>A) was identified.
|
21739570 |
2011 |
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
The most common G380R FGFR3 achondroplasia mutation was detected.
|
16475234 |
2006 |
rs28931614
|
|
Achondroplasia
|
A |
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Karyotype was normal and FGFR3 G380R mutation characteristic of ACH was excluded in both fetuses.
|
16575888 |
2006 |
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH.
|
24324705 |
2013 |
rs28931614
|
|
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
|
C |
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
This mechanism was present in ACH children carrying the G380R mutation but also in a patient in whom no mutation could be detected in the entire coding region of the FGFR3 gene.
|
19802676 |
2009 |
rs28931614
|
|
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
|
|
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
|
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 |