Article
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
American journal of human genetics - 1 Dec 2000
Bellus G A, Spector E B, Speiser P W, Weaver C A, Garber A T, Bryke C R, Israel J, Rosengren S S, Webster M K, Donoghue D J, Francomano C A
Abstract excerpt
The fibroblast growth factor-receptor 3 (FGFR3) Lys650 codon is located within a critical region of the tyrosine kinase-domain activation loop. Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with...
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