Fig. 2
From: GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females
a Left, pedigree of the affected patient, showing the carrier of the heterozygous of the de novo mutation (filled symbol) and her unaffected sister and parents. Right, validation of the identified mutation by means of PCR and Sanger sequencing: electropherograms show the wild-type sequence in the progenitors (top) and the novel GNAO1 c.596 T > C (NM_020988.2) variant in the proband (bottom), producing the amino acid change p.Leu199Pro (NP_066268.1). b Multiple sequence alignment of the GNAO1 protein region containing Leucine 199 (NP_066268.1) illustrating the high degree of evolutionary conservation of the affected residue