Variant position: 276 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 PILQAGLPANASTVVGGDVE FVCKVYSDAQPHIQWIKHVEK
Mouse PILQAGLPANASTVVGGDVE FVCKVYSDAQPHIQWIKHVEK
Chicken PILQAGLPANASAVVGGDVE FVCKVYSDAQPHIQWIKHVER
Xenopus laevis PILQAGLPANTTAVVGGDAE FVCKVYSDAQPHIRWVRYIEK
Zebrafish PILQAGLPANVTVQVGQDAK FVCKVYSDAQPHIQWLQHYTK
Drosophila PIIV--VPQNQTVKVNGSLV MKCTVYSDLHPTVSWKRVVLK
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.
274 – 277
The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.
Steinberger D.; Vriend G.; Mulliken J.B.; Mueller U.;
Hum. Genet. 102:145-150(1998)
Cited for: VARIANTS CS VAL-276 AND CYS-301; VARIANT CRANIOSYNOSTOSIS SER-314;
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;
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.