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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21802: Variant p.Ser347Cys

Fibroblast growth factor receptor 2
Gene: FGFR2
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Variant information Variant position: help 347
Type of variant: help LP/P [Disclaimer]
Residue change: help From Serine (S) to Cysteine (C) at position 347 (S347C, p.Ser347Cys).
Physico-chemical properties: help Change from small size and polar (S) to medium size and polar (C)
BLOSUM score: help -1
Variant description: help In CS.
Other resources: help


Sequence information Variant position: help 347
Protein sequence length: help 821
Location on the sequence: help LYIRNVTFEDAGEYTCLAGN S IGISFHSAWLTVLPAPGREK
Residue conservation: help
Human                         LYIRNVTFEDAGEYTCLAGNSIGISFHSAWLTVLPAPGREK

Mouse                         LYIRNVTFEDAGEYTCLAGNSIGISFHSAWLTVLPAPVREK

Chicken                       LYIRNVTFEDAGEYTCLAGNSIGISFHTAWLTVLPAPEKEK

Xenopus laevis                LYVRNVSFEDAGEYTCIAGNSIGISQHSAWLTVHPAPVNPL

Zebrafish                     LYLPNVTFEDAGEYTCLAGNSIGISYHTAWLTVHPAETNPI

Drosophila                    LTLRNVTFDQEGWYTCLASSGLGRSNSSVYLRVV-SPLPPL

Sequence annotation in neighborhood: help
TypePositionsDescription
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
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.



Literature citations
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
Jabs E.W.; Li X.; Scott A.F.; Meyers G.A.; Chen W.; Eccles M.; Mao J.; Charnas L.R.; Jackson C.E.; Jaye M.;
Nat. Genet. 8:275-279(1994)
Cited for: VARIANTS CS CYS-328 AND CYS-347; VARIANT JWS GLY-344; 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.