FGFR3 R248C [plasma membrane]

Stable Identifier
R-HSA-1614419
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
FGFR3 R248C [plasma membrane] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
8845844 Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)

Bonaventure, J, Munnich, A, El Ghouzzi, V, Rousseau, F, Legeai-Mallet, L, Le Merrer, M, Delezoide, AL

Hum Mol Genet 1996
7773297 Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

Wilcox, WR, Lachman, RS, Cohn, DH, Wasmuth, JJ, Thompson, LM, Wilkin, DJ, Rimoin, DL, Shiang, R, Zhu, YZ, Tavormina, PL

Nat Genet 1995
8589699 Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I

Cohn, DH, Wasmuth, JJ, Shiang, R, Rimoin, DL, Zhu, YZ, Tavormina, PL

Hum Mol Genet 1995
11529856 Analysis of FGFR3 gene mutations in multiple myeloma patients with t(4;14)

Lombardi, L, Baldini, L, Fabris, S, Maiolo, AT, Intini, D, Ciceri, G, Neri, A

Br J Haematol 2001
12368157 Novel mutation and RNA splice variant of fibroblast growth factor receptor 3 in multiple myeloma patients at diagnosis

Tosi, P, Baccarani, M, Ruggeri, D, Tura, S, Martinelli, G, Zamagni, E, Cavo, M, Cellini, C, Soverini, S, Terragna, C, Testoni, N

Haematologica 2002
19327639 Identification of novel fibroblast growth factor receptor 3 gene mutations in actinic cheilitis and squamous cell carcinoma of the lip

Jordan, RC, Chou, A, Dekker, N

Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2009
10471491 Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas

Sastre-Garau, X, de Medina, S, Chopin, D, Radvanyi, F, Bourdin, J, Thiery, JP, Ricol, D, Cappellen, D, De Oliveira, C

Nat Genet 1999
External Reference Information
External Reference
Gene Names
FGFR3, JTK4
Chain
signal peptide:1-22, chain:23-806
Participates
Other forms of this molecule
Modified Residues
Name
L-arginine 248 replaced with L-cysteine
Coordinate
248
PsiMod
A protein modification that effectively removes or replaces an L-arginine.
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
Disease
Name Identifier Synonyms
multiple myeloma DOID:9538
bladder carcinoma DOID:4007 carcinoma of urinary bladder, carcinoma bladder, carcinoma OF BLADDER, carcinoma of bladder (disorder), carcinoma bladder
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
head and neck squamous cell carcinoma DOID:5520 carcinoma of the head and neck, squamous cell carcinoma of the head and neck
bone development disease DOID:0080006
thanatophoric dysplasia DOID:13481
Cross References
Interactors (52)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P08238 HSP90AB1  6 0.667 4
 UniProt:O95674 CDS2  1 0.659 4
 UniProt:Q7Z7J5 DPPA2  1 0.556 3
 UniProt:Q9Y2Y0 ARL2BP  2 0.556 3
 UniProt:P62333 PSMC6  2 0.556 3
 UniProt:Q6NXG1 ESRP1  3 0.556 3
 UniProt:P23771 GATA3  2 0.556 3
 UniProt:Q96EZ8 MCRS1  1 0.556 3
 UniProt:P22415 USF1  2 0.556 3
 UniProt:Q06547-2 GABPB1  1 0.556 3
 UniProt:P38936 CDKN1A  5 0.556 3
 UniProt:Q96T60 PNKP  1 0.556 3
 UniProt:Q99075 HBEGF  8 0.556 3
 UniProt:Q9GZQ8 MAP1LC3B  3 0.556 3
 UniProt:Q04206 RELA  7 0.556 3
 UniProt:P10809 HSPD1  6 0.556 3
 UniProt:P05412 JUN  4 0.556 3
 UniProt:Q8N3R9 MPP5  2 0.556 3
 UniProt:P41134 ID1  1 0.556 3
 UniProt:Q99743 NPAS2  2 0.556 3
 UniProt:Q06323 PSME1  1 0.556 3
 UniProt:P55318 FOXA3  1 0.556 3
 UniProt:Q9NZH6 IL37  6 0.556 3
 UniProt:P17275 JUNB  1 0.556 3
 UniProt:Q16621 NFE2  1 0.556 3
 UniProt:Q00994 BEX3  1 0.556 3
 UniProt:Q9BVC3 DSCC1  1 0.556 3
 UniProt:Q9UJU6 DBNL  7 0.556 3
 UniProt:Q8WUX9 CHMP7  2 0.556 3
 UniProt:Q13573 SNW1  1 0.556 3
 UniProt:P24941 CDK2  5 0.556 3
 UniProt:Q8N5V2 NGEF  2 0.556 3
 UniProt:Q06547-3 GABPB1  1 0.556 3
 UniProt:P01106 MYC  2 0.556 3
 UniProt:Q6IAA8 LAMTOR1  5 0.556 3
 UniProt:Q6N021 TET2  1 0.556 3
 UniProt:Q9UKV8 AGO2  2 0.556 3
 UniProt:O15534 PER1  4 0.556 3
 UniProt:Q9UBX5 FBLN5  1 0.556 3
 UniProt:Q9BXU0 TEX12  1 0.556 3
 UniProt:Q86WV5 TEN1  1 0.556 3
 UniProt:O14544 SOCS6  1 0.556 3
 UniProt:Q15814 TBCC  1 0.556 3
 UniProt:P22692 IGFBP4  5 0.556 3
 UniProt:P62244 RPS15A  2 0.556 3
 UniProt:Q13352 ITGB3BP  2 0.556 3
 UniProt:Q9H2A9 CHST8  1 0.556 3
 UniProt:P19388 POLR2E  2 0.556 3
 UniProt:O14641 DVL2  5 0.556 3
 UniProt:O43504 LAMTOR5  1 0.556 3
 UniProt:Q07869 PPARA  2 0.556 3
 UniProt:A0AVK6 E2F8  1 0.556 3
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