In silico computation of functional SNPs of CYP2U1 protein leading to hereditary spastic paraplegia. (2021) - Akhtar, Ammara
Abstract: Hereditary spastic paraplegia is a genetically heterogeneous neurological disease mainly characterized by growing spasticity in a lower limb area. Spastic paraplegia 56 (SPG56) causes the autosomal recessive form of hereditary spastic paraplegia. Over time, many attempts have been made to find heterogeneity in the genome to identify the major carriers of genetic disorders. In this work, computational tools were employed to identify the pathogenic missense variants of SPG56 (Spastic paraplegia 56) that can essentially cause HSP. Various in silico tools were utilized to perform variation analysis. A variant list containing 428 variants was retrieved from gnomAD, which was later passed through several phases of stringent analysis. Furthermore, the data was cross-checked to eventually determine the highly pathogenic missense variants of SPG56. Consequently, 12 missense variants were obtained which are predicted to induce highly damaging effects on the structural and functional characteristics of CYP2U1.