Variant position: 650 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 806 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human VMKIADFGLARDVHNLDYYK KTTNGRLPVKWMAPEALFDRV
Mouse VMKIADFGLARDVHNLDYYK KTTNGRLPVKWMAPEALFDRV
Chicken VMKIADFGLARDVHNIDYYK KTTNGRLPVKWMAPEALFDRV
Xenopus laevis VMKIADFGLARDIHNIDYYK KTTNGRLPVKWMAPEALFDRI
Zebrafish VMKIADFGLARDVHNIDYYK KTTNGRLPVKWMAPEALFDRV
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
23 – 806 Fibroblast growth factor receptor 3
397 – 806 Cytoplasmic
472 – 761 Protein kinase
647 – 647 Phosphotyrosine; by autocatalysis
648 – 648 Phosphotyrosine; by autocatalysis
650 – 650 K -> D. Constitutively activated kinase.
650 – 650 K -> L. Constitutively activated kinase.
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.
Tavormina P.L.; Bellus G.A.; Webster M.K.; Bamshad M.J.; Fraley A.E.; McIntosh I.; Szabo J.; Jiang W.; Jabs E.W.; Wilcox W.R.; Wasmuth J.J.; Donoghue D.J.; Thompson L.M.; Francomano C.A.;
Am. J. Hum. Genet. 64:722-731(1999)
Cited for: INVOLVEMENT IN SADDAN; VARIANT SADDAN MET-650; CHARACTERIZATION OF VARIANT SADDAN MET-650;
Sustained phosphorylation of mutated FGFR3 is a crucial feature of genetic dwarfism and induces apoptosis in the ATDC5 chondrogenic cell line via PLCgamma-activated STAT1.
Harada D.; Yamanaka Y.; Ueda K.; Nishimura R.; Morishima T.; Seino Y.; Tanaka H.;
Cited for: FUNCTION IN REGULATION OF CHONDROCYTE PROLIFERATION AND IN ACTIVATION OF PLCG1 AND STAT1; INTERACTION WITH FHF1 AND HEPARIN; SUBCELLULAR LOCATION; PHOSPHORYLATION; CHARACTERIZATION OF VARIANTS ARG-380; GLU-650 AND MET-650;
The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor.
Bonaventure J.; Horne W.C.; Baron R.;
FEBS J. 274:3078-3093(2007)
Cited for: FUNCTION IN PHOSPHORYLATION OF CBL; UBIQUITINATION; GLYCOSYLATION; SUBCELLULAR LOCATION; ACTIVITY REGULATION; CHARACTERIZATION OF VARIANTS CYS-248; CYS-373 AND MET-650;
Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3.
Chesi M.; Nardini E.; Brents L.A.; Schroeck E.; Ried T.; Kuehl W.M.; Bergsagel P.L.;
Nat. Genet. 16:260-264(1997)
Cited for: INVOLVEMENT IN MULTIPLE MYELOMA; VARIANTS CYS-373; GLU-650 AND MET-650;
Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia type I.
Kitoh H.; Brodie S.G.; Kupke K.G.; Lachman R.S.; Wilcox W.R.;
Hum. Mutat. 12:362-363(1998)
Cited for: VARIANT TD1 MET-650;
Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans.
Logie A.; Dunois-Larde C.; Rosty C.; Levrel O.; Blanche M.; Ribeiro A.; Gasc J.-M.; Jorcano J.; Werner S.; Sastre-Garau X.; Thiery J.P.; Radvanyi F.;
Hum. Mol. Genet. 14:1153-1160(2005)
Cited for: VARIANTS KERSEB CYS-248; CYS-249; CYS-370; CYS-371; CYS-373; GLU-650 AND MET-650;
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