The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants

Figure 1

(a) Electropherogram of the patients having novel variants shows homozygote variants at positions c.128T > G and c.251T > A in the MC2R gene, and segregation analysis of the parents is shown. (b) Alignment of the MC2R gene at positions 43 and 84 in different species shows conservation. (c) Phyre structural analysis for p.Leu43Arg and p.Ile84Asn based on disordered and secondary structure effects. The helix does not change, and the influence is very low. The order is changed for p.Leu43Arg more than p.Ile84Asn.