Fig. 2
From: The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants
Identification of a novel NUDT2 missense variant. (A) Schematic representation of NUDT2 transcript (NM_001244390) and protein (NP_001231319) with the light blue box delineates the catalytically active Nudix Box. Previously identified variants in GDD/ID are indicated in blue. The identified novel variant is indicated in red. The secondary structure of NUDT2 protein (six beta-strands and four helixes) shows I65 located at the loop between the first and second helixes. (B) Conservation of the identified variants in NUDT2. The residue R12 and I65 (marked with red arrows) are highly conserved among species. (C) Location of I65R mutant in NUDT2 protein (AlphaFold: AF-P50583-F1) and the fold stability change prediction (ΔΔG) upon I65R mutant using four methods (mCSM/SDM/DUET/CUPSAT). I65R destabilizes overall stability