Computational analysis of non-synonymous single nucleotide polymorphism in UROD gene linked with familial Porphyria Cutanea Tarda

Porphyria Cutanea Tarda (PCT) is the most common type of human porphyria, characterized by onycholysis and blisters on the skin. It is a multifactorial disorder, mainly characterized by reduced umporphyrinogen decarboxylase enzyme activity. Non-synonymous single nucleotide polymorphisms (nsSNPs) in UROD gene resulted in amino acid sequence alteration in protein product. Previous studies have reported that nsSNPs in UROD gene linked with familial PCT. The preliminary aim of current study is to evaluate the effect of nsSNPs on structure and function of UROD enzyme by developing the secondary and tertiary structures, computationally. Out of 294 nsSNPs, 115 nsSNPs within the coding region have been analyzed as deleterious by means of all evaluated tools, suggesting their involvement in downregulation of UROD gene expression and its protein product functioning. In future, the current study would be used to perform in-vitro analysis of reported nsSNPs, which ultimately lead towards the effective drug designing strategies.