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.
Profound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type II.
Webster M.K.; D'Avis P.Y.; Robertson S.C.; Donoghue D.J.;
Mol. Cell. Biol. 16:4081-4087(1996)
Cited for: CHARACTERIZATION OF VARIANT TD2 GLU-650; CHARACTERIZATION OF VARIANT GLN-650; PHOSPHORYLATION AT TYR-647 AND TYR-648;
Distinct missense mutations of the FGFR3 Lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
Bellus G.A.; Spector E.B.; Speiser P.W.; Weaver C.A.; Garber A.T.; Bryke C.R.; Israel J.; Rosengren S.S.; Webster M.K.; Donoghue D.J.; Francomano C.A.;
Am. J. Hum. Genet. 67:1411-1421(2000)
Cited for: VARIANT HYPOCHONDROPLASIA GLN-650;
Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma.
Sibley K.; Cuthbert-Heavens D.; Knowles M.A.;
Cited for: VARIANT BLC CANCER GLN-650;
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