Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21802: Variant p.Ser252Trp

Fibroblast growth factor receptor 2
Gene: FGFR2
Feedback?
Variant information Variant position: help 252
Type of variant: help LP/P [Disclaimer]
Residue change: help From Serine (S) to Tryptophan (W) at position 252 (S252W, p.Ser252Trp).
Physico-chemical properties: help Change from small size and polar (S) to large size and aromatic (W)
BLOSUM score: help -3
Variant description: help In APRS and PS; common mutation.
Other resources: help


Sequence information Variant position: help 252
Protein sequence length: help 821
Location on the sequence: help VVENEYGSINHTYHLDVVER S PHRPILQAGLPANASTVVGG
Residue conservation: help 
Human                         VVENEYGSINHTYHLDVVERSPHRPILQAGLPANASTVVGG

Mouse                         LVENEYGSINHTYHLDVVERSPHRPILQAGLPANASTVVGG

Chicken                       IVENQYGSINHTYHLDVVERSPHRPILQAGLPANASAVVGG

Xenopus laevis                IVENEHGSINHTYHLDVIERSSHRPILQAGLPANTTAVVGG

Zebrafish                     LVENQYGSIDHTYTLDVVERSPHRPILQAGLPANVTVQVGQ

Drosophila                    KVCNAWGCIQFDFSVQINDRTRSAPIIV--VPQNQTVKVNG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 22 – 821 Fibroblast growth factor receptor 2
Topological domain 22 – 377 Extracellular
Glycosylation 241 – 241 N-linked (GlcNAc...) asparagine
Glycosylation 265 – 265 N-linked (GlcNAc...) asparagine
Alternative sequence 250 – 361 Missing. In isoform 17.
Alternative sequence 250 – 254 ERSPH -> GSQGL. In isoform 8.
Mutagenesis 265 – 265 N -> Q. Reduced N-glycosylation. Reduced expression at the cell surface.



Literature citations
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.
Park W.-J.; Theda C.; Maestri N.E.; Meyers G.A.; Fryburg J.S.; Dufresne C.; Cohen M.M. Jr.; Jabs E.W.;
Am. J. Hum. Genet. 57:321-328(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 249-313; VARIANTS APRS TRP-252 AND ARG-253; Cbl-mediated degradation of Lyn and Fyn induced by constitutive fibroblast growth factor receptor-2 activation supports osteoblast differentiation.
Kaabeche K.; Lemonnier J.; Le Mee S.; Caverzasio J.; Marie P.J.;
J. Biol. Chem. 279:36259-36267(2004)
Cited for: FUNCTION IN OSTEOBLAST DIFFERENTIATION AND IN PHOSPHORYLATION OF CBL; INTERACTION WITH CBL; UBIQUITINATION; CHARACTERIZATION OF VARIANT APRS TRP-252; Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome.
Ibrahimi O.A.; Eliseenkova A.V.; Plotnikov A.N.; Yu K.; Ornitz D.M.; Mohammadi M.;
Proc. Natl. Acad. Sci. U.S.A. 98:7182-7187(2001)
Cited for: X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF 147-366 OF VARIANTS APRS TRP-252 AND ARG-253 IN COMPLEX WITH FGF2; Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
Wilkie A.O.M.; Slaney S.F.; Oldridge M.; Poole M.D.; Ashworth G.J.; Hockley A.D.; Hayward R.D.; David D.J.; Pulleyn L.J.; Rutland P.; Malcolm S.; Winter R.M.; Reardon W.;
Nat. Genet. 9:165-172(1995)
Cited for: VARIANTS APRS TRP-252 AND ARG-253; Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
Passos-Bueno M.R.; Sertie A.L.; Richieri-Costa A.; Alonso L.G.; Zatz M.; Alonso N.; Brunoni D.; Ribeiro S.F.M.;
Am. J. Med. Genet. 78:237-241(1998)
Cited for: VARIANTS CS PHE-278; PRO-337; ARG-338; ARG-342; PHE-342 AND TYR-342; VARIANTS APRS TRP-252 AND ARG-253; VARIANT JWS PHE-278; Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndrome.
Tsai F.-J.; Hwu W.-L.; Lin S.-P.; Chang J.-G.; Wang T.-R.; Tsai C.-H.;
Hum. Mutat. Suppl. 1:S18-S19(1998)
Cited for: VARIANTS APRS TRP-252 AND ARG-253; Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
Passos-Bueno M.R.; Richieri-Costa A.; Sertie A.L.; Kneppers A.;
J. Med. Genet. 35:677-679(1998)
Cited for: VARIANT PS TRP-252; 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-SER-PRO-253 DELINS PHE-SER; 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;
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.