Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.
Tavormina
P L
PL
Department of Biological Chemistry, University of California, Irvine 92717, USA.
Rimoin
D L
DL
Cohn
D H
DH
Zhu
Y Z
YZ
Shiang
R
R
Wasmuth
J J
JJ
D000595:Amino Acid Sequence; D001482:Base Composition; D001483:Base Sequence; D001665:Binding Sites; D003545:Cysteine / Q000235:genetics; D004247:DNA; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013796:Thanatophoric Dysplasia / Q000235:genetics*
D017468:Receptors, Fibroblast Growth Factor; D004247:DNA; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D003545:Cysteine