Sequence information
Variant position: 370 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:
HSAWLVVLPAEEELVEADEA
G SVYAGILSYGVGFFLFILVV
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 HSAWLVVL-PAEEELVEAD-EAG SVYAGILSYGVGFFLFILVV
Mouse HSAWLVVL-PAEEELMETD-EAG SVYAGVLSYGVVFFLFIL
Chicken HSAWLTVL-PAEE-LMEMD-DSG SVYAGILSYGTGLVLFIL
Xenopus laevis ASFWLHIYKPAPAEPVEKALTTS SSSITVLIVVTSTIVFIL
Zebrafish HSAWLTVL-PAVE--MERE-DD- --YADILIYVTSCVLFIL
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
Alternative sequence
311 – 422
Missing. In isoform 3.
Beta strand
369 – 372
Literature citations
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;
G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.
Katsumata N.; Kuno T.; Miyazaki S.; Mikami S.; Nagashima-Miyokawa A.; Nimura A.; Horikawa R.; Tanaka T.;
Endocr. J. 45:S171-S174(1998)
Cited for: VARIANT TD1 CYS-370;
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;
Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.
Hafner C.; van Oers J.M.M.; Vogt T.; Landthaler M.; Stoehr R.; Blaszyk H.; Hofstaedter F.; Zwarthoff E.C.; Hartmann A.;
J. Clin. Invest. 116:2201-2207(2006)
Cited for: VARIANTS KNEN CYS-248; CYS-370 AND ARG-380;
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.