Sequence information
Variant position: 249 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:
VVENKFGSIRQTYTLDVLER
S PHRPILQAGLPANQTAVLGS
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 VVENKFGSIRQTYTLDVLERS PHRPILQAGLPANQTAVLGS
Mouse VVENKFGSIRQTYTLDVLERS PHRPILQAGLPANQTAILGS
Chicken VVENKYGNIRHTYQLDVLERS PHRPILQAGLPANQTVVVGS
Xenopus laevis VVENKYGSIRQTYQLDVLERS SHRPILQAGLPGNQTVVLGS
Zebrafish VVQNKYGSIKHTYQLDVLERS PHRPILQAGLPANQTVVVGS
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
23 – 375
Extracellular
Glycosylation
262 – 262
N-linked (GlcNAc...) asparagine
Literature citations
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.
Tavormina P.L.; Rimoin D.L.; Cohn D.H.; Zhu Y.-Z.; Shiang R.; Wasmuth J.J.;
Hum. Mol. Genet. 4:2175-2177(1995)
Cited for: VARIANT TD1 CYS-249;
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
Rousseau F.; el Ghouzzi V.; Delezoide A.-L.; Legeai-Mallet L.; le Merrer M.; Munnich A.; Bonaventure J.;
Hum. Mol. Genet. 5:509-512(1996)
Cited for: VARIANTS TD1 CYS-248; CYS-249; CYS-370 AND CYS-373;
Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.
Brodie S.G.; Kitoh H.; Lachman R.S.; Nolasco L.M.; Mekikian P.B.; Wilcox W.R.;
Am. J. Med. Genet. 84:476-480(1999)
Cited for: VARIANTS TD1 CYS-248; CYS-249 AND CYS-373;
Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.
Cappellen D.; De Oliveira C.; Ricol D.; Gil Diez de Medina S.; Bourdin J.; Sastre-Garau X.; Chopin D.; Thiery J.P.; Radvanyi F.;
Nat. Genet. 23:18-20(1999)
Cited for: VARIANTS BLC CYS-248; CYS-249; CYS-370 AND GLU-650; VARIANTS CERCA CYS-248; CYS-249; CYS-370 AND 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;
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.