Sequence information
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:
VMKIADFGLARDVHNLDYYK
K TTNGRLPVKWMAPEALFDRV
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 VMKIADFGLARDVHNLDYYKK TTNGRLPVKWMAPEALFDRV
Mouse VMKIADFGLARDVHNLDYYKK TTNGRLPVKWMAPEALFDRV
Chicken VMKIADFGLARDVHNIDYYKK TTNGRLPVKWMAPEALFDRV
Xenopus laevis VMKIADFGLARDIHNIDYYKK TTNGRLPVKWMAPEALFDRI
Zebrafish VMKIADFGLARDVHNIDYYKK TTNGRLPVKWMAPEALFDRV
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
Chain
23 – 806
Fibroblast growth factor receptor 3
Topological domain
397 – 806
Cytoplasmic
Domain
472 – 761
Protein kinase
Modified residue
647 – 647
Phosphotyrosine; by autocatalysis
Modified residue
648 – 648
Phosphotyrosine; by autocatalysis
Mutagenesis
650 – 650
K -> D. Constitutively activated kinase.
Mutagenesis
650 – 650
K -> L. Constitutively activated kinase.
Literature citations
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.;
Oncogene 20:686-691(2001)
Cited for: VARIANT BLC CANCER GLN-650;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.