Sequence information
Variant position: 342 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:
KEIEVLYIRNVTFEDAGEYT
C LAGNSIGISFHSAWLTVLPA
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 KEIEVLYIRNVTFEDAGEYTC LAGNSIGISFHSAWLTVL----PA
Mouse KEIEVLYIRNVTFEDAGEYTC LAGNSIGISFHSAWLTVL--
Chicken KEIEVLYIRNVTFEDAGEYTC LAGNSIGISFHTAWLTVL--
Xenopus laevis EEIEVLYVRNVSFEDAGEYTC IAGNSIGISQHSAWLTVH--
Zebrafish KEIEVLYLPNVTFEDAGEYTC LAGNSIGISYHTAWLTVH--
Drosophila DSV-VLTLRNVTFDQEGWYTC LASSGLGRSNSSVYLRVVSP
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
Chain
22 – 821
Fibroblast growth factor receptor 2
Topological domain
22 – 377
Extracellular
Domain
256 – 358
Ig-like C2-type 3
Glycosylation
331 – 331
N-linked (GlcNAc...) asparagine
Disulfide bond
278 – 342
Alternative sequence
250 – 361
Missing. In isoform 17.
Alternative sequence
255 – 821
Missing. In isoform 8.
Alternative sequence
314 – 429
Missing. In isoform 9.
Alternative sequence
341 – 353
TCLAGNSIGISFH -> ICKVSNYIGQANQ. In isoform 3, isoform 4, isoform 11, isoform 12, isoform 13 and isoform 16.
Alternative sequence
361 – 361
P -> PKQQ. In isoform 3, isoform 4, isoform 11, isoform 12, isoform 13 and isoform 16.
Beta strand
338 – 346
Literature citations
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.
Gorry M.C.; Preston R.A.; White G.J.; Zhang Y.; Singhal V.K.; Losken H.W.; Parker M.G.; Nwokoro N.A.; Post J.C.; Ehrlich G.D.;
Hum. Mol. Genet. 4:1387-1390(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 263-361; VARIANTS CS PRO-289; ARG-338; SER-342; TYR-342; GLY-344 AND CYS-354;
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
Reardon W.; Winter R.M.; Rutland P.; Pulleyn L.J.; Jones B.M.; Malcolm S.;
Nat. Genet. 8:98-103(1994)
Cited for: VARIANTS CS HIS-340; ARG-342; SER-342; TYR-342 AND CYS-354;
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.
Rutland P.; Pulleyn L.J.; Reardon W.; Baraister M.; Hayward R.; Jones B.M.; Malcolm S.; Winter R.M.; Oldridge M.; Slaney S.F.; Poole M.D.; Wilkie A.O.M.;
Nat. Genet. 9:173-176(1995)
Cited for: VARIANTS PS PRO-341; ARG-342 AND TYR-342;
FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.
Meyers G.A.; Day D.; Goldberg R.; Daentl D.L.; Przylepa K.A.; Abrams L.J.; Graham J.M. Jr.; Feingold M.; Moeschler J.B.; Rawnsley E.; Scott A.F.; Jabs E.W.;
Am. J. Hum. Genet. 58:491-498(1996)
Cited for: VARIANTS CS GLY-268 INS; PHE-342 AND TYR-342; VARIANTS PS PHE-278; ARG-342; SER-342; PRO-344 AND PHE-359; VARIANT JWS PRO-289;
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;
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;
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;
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.