BBTác giả: Khan, Auroni Semonti; Người hướng dẫn: -; Người tham gia: Parvez, Nahid; Ahsan, Tamim; Shoily, Sabrina Samad; Sajib, Abu Ashfaqur (2022)
A total of 153 missense variants of pirin were identified (Additional file 1: Table S1). The pathogenicity of these variants was predicted using five different tools (SIFT, PolyPhen2, PMut, Meta-SNP and Rhapsody). Each tool follows a different algorithm to predict pathogenicity. SIFT uses sequence homology-based approach for classifying a missense variant as either deleterious or tolerated (Sim et al. 2012). PolyPhen-2 classifies an amino acid substitution into probably damaging, possibly damaging, and benign on the basis of sequence, phylogenetic and structural characteristics of the substitution(Adzhubei et al. 2010, 2013). PMut uses neural networks to predict structure and evolutio... 
