IN-SILICO ANALYSIS AS TOOLS OF MOLECULAR SCREENING OF A MUTATION CAUSING CATARACT.

Main Article Content

Najeeb Ullah, Munir Ahmad Bhinder, Bisma Rauff , Leena Moaaz Hashim Mohamedain, Hafsa Sunniya, Saba Adam, Faiza Munir, Jeand Baloch

Keywords

Cataract, Conservation Analysis, Protein Structure Analysis, Bioinformatics

Abstract

Cataract is a disorder of eye lens where an opaque lens causes the blurred vision. Occurrence of cataract is common around the world and its causes range from environmental reasons to genetic mutations. Genetic cataract is heterogeneous in nature and several hundred genes are discovered to this day, reported to cause cataract. This study involves in-silico analysis of an already known cataract causing mutation (c.233G>A) in order to ascertain the impact of this mutation in mutated protein. Bioinformatics tools were employed to calculate and compare physical parameters of mutated protein with that of its normal copy. Calculating physical parameters illustrated that mutated protein has higher polarity, lower hydrophobicity and enhanced refractivity. Conservation analysis identified that resulting mutated residue p.G78G is residing in a highly conserved region and this mutation has damaging impact. Three dimensional structures of both wild and mutant MP19 protein were predicted using I-Tasser tool and structures with highest quality score were selected. Predicted structure of wild MP19 protein was validated through Ramachandran plot and Z-score calculations using Procheck and PROSA web tools, respectively. The mutation (p.G78D) was characterised in wild MP19 protein model and was viewed through Chimera tool. In-silico analysis predicted that mutation p.G78G may bring about  changes of clinical significance.

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