Validation and segregation of c.1205G > A (p.R402H) mutation in SARS2 . (A) Family pedigree. (B) Electropherograms showing Sanger sequence validation of the SARS2 c.1205G > A (p.R402H) mutation. (C) Multiple sequence alignment of SARS2 protein region surrounding the novel R402H mutation (blue) in various species. The position of D390G mutation is also indicated (red). (D) Spatial localization of R402 (blue) and D390 (red) is shown in the model of 3D structure of SARS2 protein (PDB code 1WLE). R402 is mutated in patients II-1 and II-2 and D390 is mutated in previously described patients with HUPRA syndrome.