|
Thanatophoric dysplasia, type 2
|
|
0.890 |
GeneticVariation
|
BEFREE |
Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]).
|
11055896 |
2000 |
|
Thanatophoric dysplasia, type 2
|
|
0.890 |
GeneticVariation
|
BEFREE |
Despite its location within the same FGFR3 codon as the thanatophoric dysplasia type II mutation (Lys650Glu) and a similar effect on constitutive activation of the FGFR3 tyrosine kinase, the Lys650Met is not associated with cloverleaf skull or craniosynostosis.
|
10377013 |
1999 |
|
Thanatophoric dysplasia, type 2
|
|
0.890 |
GeneticVariation
|
BEFREE |
Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II.
|
24075385 |
2013 |
|
Thanatophoric dysplasia, type 2
|
|
0.890 |
GeneticVariation
|
BEFREE |
The result was consistent with a K650E mutation in FGFR3 and TD2.
|
29458880 |
2018 |
|
Thanatophoric dysplasia, type 2
|
|
0.890 |
GeneticVariation
|
BEFREE |
The K650E gain-of-function mutation in the tyrosine kinase domain of FGF receptor 3 (FGFR3) causes Thanatophoric Dysplasia type II, a neonatal lethal congenital dwarfism syndrome, and when acquired somatically, it contributes to carcinogenesis.
|
23972473 |
2013 |
|
Thanatophoric dysplasia, type 2
|
|
0.890 |
GeneticVariation
|
BEFREE |
Mutation of Lys650-->Glu in the activation loop of the FGFR3 kinase domain causes the lethal human skeletal disorder thanatophoric dysplasia type II (TDII) and is also found in patients with multiple myeloma, bladder and cervical carcinomas.
|
10918587 |
2000 |
|
Thanatophoric dysplasia, type 2
|
|
0.890 |
GeneticVariation
|
BEFREE |
Thanatophoric dysplasia type II (TDII) is a neonatal lethal skeletal dysplasia caused by a recurrent Lys-650-->Glu mutation within the highly conserved activation loop of the kinase domain of fibroblast growth factor receptor 3 (FGFR3).
|
8754806 |
1996 |
|
Thanatophoric dysplasia, type 2
|
|
0.890 |
GeneticVariation
|
BEFREE |
The K650E substitution in the fibroblast growth factor receptor 3 (FGFR3) causes constitutive tyrosine kinase activity of the receptor and is associated to the lethal skeletal disorder, thanatophoric dysplasia type II (TDII).
|
12624096 |
2003 |
|
Thanatophoric dysplasia, type 2
|
|
0.890 |
GeneticVariation
|
BEFREE |
Using a mouse model of thanatophoric dysplasia type II in which FGFR3(K650E) expression was directed to the appendicular skeleton, we show that the mutant receptor caused a block in chondrocyte differentiation specifically at the prehypertrophic stage.
|
22843502 |
2012 |
|
Multiple Myeloma
|
|
0.730 |
GeneticVariation
|
BEFREE |
Since cell lines may represent useful models for investigating the effects of deregulated FGFR3 mutants in MM, we analysed the expression, activation, signaling pathways and oncogenic potential of three mutants identified so far: the Y373C and K650E in the KMS-11 and OPM-2 cell lines respectively, and the novel G384D mutation here identified in the KMS-18 cell line.
|
11429702 |
2001 |
|
Multiple Myeloma
|
|
0.730 |
GeneticVariation
|
BEFREE |
Cell apoptosis assays were performed in a plasmacytoma cell line, FR4 cells and a myeloma cell line, RPMI8226 cells overexpressing wild-type FGFR3 (FGFR3(WT)) or two different mutants, FGFR3(K650E) or FGFR3(Y373C), and the induction of endoplasmic reticulum (ER) stress protein was compared between each type of cell.
|
21273588 |
2011 |
|
Multiple Myeloma
|
|
0.730 |
GeneticVariation
|
BEFREE |
Mutation of Lys650-->Glu in the activation loop of the FGFR3 kinase domain causes the lethal human skeletal disorder thanatophoric dysplasia type II (TDII) and is also found in patients with multiple myeloma, bladder and cervical carcinomas.
|
10918587 |
2000 |
|
Craniosynostosis
|
|
0.720 |
GeneticVariation
|
BEFREE |
Despite its location within the same FGFR3 codon as the thanatophoric dysplasia type II mutation (Lys650Glu) and a similar effect on constitutive activation of the FGFR3 tyrosine kinase, the Lys650Met is not associated with cloverleaf skull or craniosynostosis.
|
10377013 |
1999 |
|
Acanthosis Nigricans
|
|
0.720 |
GeneticVariation
|
BEFREE |
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.
|
21510009 |
2011 |
|
Acanthosis Nigricans
|
|
0.720 |
GeneticVariation
|
BEFREE |
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.
|
18000903 |
2007 |
|
Craniosynostosis
|
|
0.720 |
GeneticVariation
|
BEFREE |
Radiographically, all of the cases with the Lys650Glu substitution demonstrated straight femora with craniosynostosis, and frequently a cloverleaf skull (CS) was demonstrated.
|
9677066 |
1998 |
|
Carcinoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
Mutation of Lys650-->Glu in the activation loop of the FGFR3 kinase domain causes the lethal human skeletal disorder thanatophoric dysplasia type II (TDII) and is also found in patients with multiple myeloma, bladder and cervical carcinomas.
|
10918587 |
2000 |
|
Hypochondroplasia (disorder)
|
|
0.710 |
GeneticVariation
|
BEFREE |
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.
|
21510009 |
2011 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
|
0.060 |
GeneticVariation
|
BEFREE |
Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes identified 2 mutations in FGFR3 (both 1948A>G, encoding K650E, which causes thanatophoric dysplasia in the germline) and 5 mutations in HRAS.
|
19855393 |
2009 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
|
0.060 |
GeneticVariation
|
BEFREE |
A sporadic mutation causing a Lys650Glu change in the tyrosine kinase domain of FGFR3 was found in 16 of 16 individuals with one type of TD.
|
7773297 |
1995 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
|
0.060 |
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 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
|
0.060 |
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 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
|
0.060 |
GeneticVariation
|
BEFREE |
Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]).
|
11055896 |
2000 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
|
0.060 |
GeneticVariation
|
BEFREE |
In all other cases, the femora were curved, and CS was infrequently present but was occasionally as severe as TD with the Lys650Glu substitution.
|
9677066 |
1998 |
|
Thanatophoric Dysplasia
|
|
0.050 |
GeneticVariation
|
BEFREE |
In all other cases, the femora were curved, and CS was infrequently present but was occasionally as severe as TD with the Lys650Glu substitution.
|
9677066 |
1998 |