Variant position: 263 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 821 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 TYHLDVVERSPHRPILQAGL PANASTVVGGDVEFVCKVYSD
Mouse TYHLDVVERSPHRPILQAGL PANASTVVGGDVEFVCKVYSD
Chicken TYHLDVVERSPHRPILQAGL PANASAVVGGDVEFVCKVYSD
Xenopus laevis TYHLDVIERSSHRPILQAGL PANTTAVVGGDAEFVCKVYSD
Zebrafish TYTLDVVERSPHRPILQAGL PANVTVQVGQDAKFVCKVYSD
Drosophila DFSVQINDRTRSAPIIV--V PQNQTVKVNGSLVMKCTVYSD
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
22 – 821 Fibroblast growth factor receptor 2
22 – 377 Extracellular
256 – 358 Ig-like C2-type 3
265 – 265 N-linked (GlcNAc...) asparagine
250 – 361 Missing. In isoform 17.
255 – 821 Missing. In isoform 8.
265 – 265 N -> Q. Reduced N-glycosylation. Reduced expression at the cell surface.
Clustering of FGFR2 gene mutations in patients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
Kress W.; Collmann H.; Buesse M.; Halliger-Keller B.; Mueller C.R.;
Cytogenet. Cell Genet. 91:134-137(2000)
Cited for: VARIANTS CS/PS ARG-342 AND TYR-342; VARIANTS CS LEU-263; VAL-276; PHE-278; TYR-278; SER-288; PRO-289; PRO-341; TRP-342; CYS-354; TYR-354 AND PHE-359; VARIANT PS SER-342;
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.