Variant position: 371 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 SAWLVVL-PAEEELVEAD-EAG SVYAGILSYGVGFFLFILVVA
Mouse SAWLVVL-PAEEELMETD-EAG SVYAGVLSYGVVFFLFILV
Chicken SAWLTVL-PAEE-LMEMD-DSG SVYAGILSYGTGLVLFILV
Xenopus laevis SFWLHIYKPAPAEPVEKALTTS SSSITVLIVVTSTIVFILL
Zebrafish SAWLTVL-PAVE--MERE-DD- --YADILIYVTSCVLFILT
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
23 – 375 Extracellular
311 – 422 Missing. In isoform 3.
369 – 372
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
Tavormina P.L.; Shiang R.; Thompson L.M.; Zhu Y.-Z.; Wilkin D.J.; Lachman R.S.; Wilcox W.R.; Rimoin D.L.; Cohn D.H.; Wasmuth J.J.;
Nat. Genet. 9:321-328(1995)
Cited for: VARIANTS TD1 CYS-248 AND CYS-371; VARIANT TD2 GLU-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;
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.