Variant position: 375 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 VVL-PAEEELVEAD-EAGSVYA GILSYGVGFFLFILVVAAVTL
Mouse VVL-PAEEELMETD-EAGSVYA GVLSYGVVFFLFILVVAAV
Chicken TVL-PAEE-LMEMD-DSGSVYA GILSYGTGLVLFILVLVIV
Xenopus laevis HIYKPAPAEPVEKALTTSSSSI TVLIVVTSTIVFILLVIIV
Zebrafish TVL-PAVE--MERE-DD---YA DILIYVTSCVLFILTMVII
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.
374 – 398
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.
Superti-Furga A.; Eich G.; Bucher H.U.; Wisser J.; Giedion A.; Gitzelmann R.; Steinmann B.;
Eur. J. Pediatr. 154:215-219(1995)
Cited for: VARIANT ACH CYS-375;
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.