Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism
J. Clin. Invest. Nelly Pitteloud, et al. 117:457 doi:10.1172/JCI29884 [Go to this article.]

Figure 2
Schematic showing location of the 2 FGFR1 mutations and conservation of L342 and R470 residues across species and FGFRs. (A) The FGFR1 gene is located on chromosome 8p. FGFR1 contains 18 exons with intervening introns not drawn due to scale. SP, signal peptide; TM, transmembrane domain; TK, tyrosine kinase domain. (B) Comparison of L342 and R470 across species and within the FGFR family.