Variant position: 281 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 GLPANASTVVGGDVEFVCKV YSDAQPHIQWIKHVEKNGSKY
Mouse GLPANASTVVGGDVEFVCKV YSDAQPHIQWIKHVEKNGSKN
Chicken GLPANASAVVGGDVEFVCKV YSDAQPHIQWIKHVERNGSKY
Xenopus laevis GLPANTTAVVGGDAEFVCKV YSDAQPHIRWVRYIEKNGSRF
Zebrafish GLPANVTVQVGQDAKFVCKV YSDAQPHIQWLQHYTKNGSCC
Drosophila -VPQNQTVKVNGSLVMKCTV YSDLHPTVSWKRVVLKNAS--
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
297 – 297 N-linked (GlcNAc...) asparagine
278 – 342
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.
Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients.
Tsai F.-J.; Yang C.-F.; Wu J.-Y.; Tsai C.-H.; Lee C.-C.;
Pediatr. Int. 43:263-266(2001)
Cited for: VARIANTS CS CYS-281; PRO-289; ARG-342 AND TYR-342;
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
Kan S.-H.; Elanko N.; Johnson D.; Cornejo-Roldan L.R.; Cook J.; Reich E.W.; Tomkins S.; Verloes A.; Twigg S.R.F.; Rannan-Eliya S.; McDonald-McGinn D.M.; Zackai E.H.; Wall S.A.; Muenke M.; Wilkie A.O.M.;
Am. J. Hum. Genet. 70:472-486(2002)
Cited for: VARIANTS CS CYS-105; PRO-267; VAL-276; CYS-281; PRO-289; ARG-338; HIS-340; PHE-342; TRP-342; CYS-347; CYS-354; HIS-549 AND GLY-678; VARIANTS PS PHE-172; 252-PHE-SER-253; CYS-290; CYS-340; PRO-341; ARG-342; SER-342; CYS-375; GLY-565; ARG-641 AND GLU-663; VARIANTS APRS TRP-252 AND ARG-253; VARIANTS CS/PS PHE-278 AND TYR-342; VARIANT CRANIOSYNOSTOSIS ASN-659; VARIANTS THR-186 AND SER-315;
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.