Mechanism evaluation for an amino acid substitution p.Y246C of B-glycosyltransferase enzyme with Bweak phenotype.
Yanling YingXiaozhen HongXianguo XuJingjing ZhangJi HeFaming ZhuXinyou XiePublished in: Vox sanguinis (2020)
The p.Y246C variant in the vicinity of the enzyme active centre reduced the antigen expression because of greatly destabilizing effect on the GTB variant.