Fig. 1: Mutations identified in hBRAF in patients with CFC and SOD. | Nature Communications

Fig. 1: Mutations identified in hBRAF in patients with CFC and SOD.

From: Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans

Fig. 1

a Schematic diagram of the hBRAF protein and the location of the mutations identified. The numbers indicate the location where each protein domain begins and ends. The mutations identified in the patients are labelled indicating the position of the substitution. b Electropherograms illustrating the mutations identified, indicated by an arrow and an ‘N’ in the sequence of each patient, with the corresponding wild-type (Wt) sequence below. (i) A heterozygous missense variant (c.721A>C) was identified in exon 6 of BRAF in patient 3, (ii) a heterozygous missense variant (c.770A>G) was identified in exon 6 of BRAF in patients 1 and 4, (iii) a heterozygous missense variant (c.1403T>C) was identified in exon 11 of BRAF in patient 2, (iv) a heterozygous missense variant (c.1406G>A) was identified in exon 11 of BRAF in patient 5. c Amino acid conservation of the BRAF substitutions identified in our study. (i) The threonine residue (represented by the green ‘T’) at position p.T241, (ii) the glutamine (represented by the green ‘Q’) at position p.Q257, (iii) the phenylalanine (represented by the green ‘F’) at position p.F468 and (iv) the glycine (represented by the green ‘G’) at position p.G469, and their adjacent protein sequences either side, respectively, are located at conserved regions across multiple species.

Back to article page