https://www.selleckchem.com/products/rin1.html 368T > C, p.F123S and c.1649G > A, p.R550H). The origin of the two mutations was also verified in the patient's parents via Sanger sequencing. The mutation c.368T > C (p.F123S) was discovered and confirmed to be novel and previously unreported. Using software-based bioinformatics analyses, we deduced that the two mutation sites are highly conserved across a wide range of species, with the ability to alter different phosphorylation sites and destabilize the ASNS protein structure. The newly identified p.F123S mutation was predicted to be the most significantly destabilizing and detrimental mutation to the ASNS protein structure, compared to all other previously reported mutations. CONCLUSION Evidently, the presence of these compound heterozygous mutations could lead to severe clinical phenotypes and serve as a potential indicator for considerably higher risk with less optimistic prognosis in ASNSD patients. © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.Motivated by the problem of energy shortage and in view of current efforts to develop clean, renewable energy sources based on fusion, we propose a solar-driven strategy for deuterium evolution. Deuterium is a critical resource for many aspects; however, the limited natural abundance of deuterium and the complexity of existing technologies such as quantum sieving (QS) for deuterium production under extreme conditions pose challenges. Our new method has the potential for robust and sustainable deuterium evolution. We observed deuterium production at a high rate of 9.745 mmol g-1 h-1. We also investigated and compared the activity, thermodynamic, and kinetic characteristics between photocatalytic heavy water (D2O) splitting and water (H2O) splitting. This study opens a new avenue to discover promising photocatalytic deuterium generation systems for advanced solar energy utilization and deuterium enrichments. © 2020 WILEY-VCH Ver