Figure 1
From: A novel KAL1 mutation is associated with combined pituitary hormone deficiency
Identification of sequence variation of KAL1. (a) Partial sequence of PCR product and schematic diagrams of the anosmin-1 (coded by KAL1 gene) protein. The chromatogram represents a hemizygous substitution of glutamine (CAA) in place of histidine (CAC) at codon 568, located in the fourth FnIII domain. The arrow indicates the mutated nucleotide. The reported 3 missense mutations identified in CPHD/SOD patients are summarized. (b) His568 is a highly evolutionarily conserved amino acid across mammals.
