Computational Prediction of Damaging nsSNPs in PRSS12 gene, responsible For Autosomal Recessive Non-Syndromic Mental Retardation
Computational Prediction of Damaging nsSNPs in PRSS12 gene, responsible For Autosomal Recessive Non-Syndromic Mental Retardation.
Bushra Ata Hashmi1, Muhammad Ayaz Khan2, Muhammad Akhlaq3, Muzammil Ahmad Khan4
1,2 Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I.Khan, Khyber-Pakhtoonkhuwa, Pakistan
3 Department of Pharmaceutics, Faculty of Pharmacy, Gomal University, Dera Ismail Khan, 29050, KPK, Pakistan
4 Interim Translational Research Institute, Hamad Medical Corporation, Doha, Qatar
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Corresponding Author: Muzammil Ahmad Khan; (0092)345-526-9635, (00974)3357-6079; firstname.lastname@example.org
Various forms of genetic variations exist in the human genome which ranges from large chromosomal anomalies to single nucleotide variation. Single nucleotide polymorphism (SNP) may occur within the coding as well as non-coding regions of genes. SNPs that are present in the coding region do not always change the amino acid sequence of protein, and that due to degeneracy of genetic code. Therefore SNPs in coding region are of two types, synonymous and non- synonymous. Synonymous SNPs encode same amino acid and thus do not affect protein sequence while non-synonymous SNPs change the amino acid sequence with in protein.
Single nucleotide polymorphism is a variation of one base substitution which when appears in coding exons (nsSNPs) leads to single amino acid variation. These variations may lead to the functional consequences of protein and ultimately results in a disease phenotype. In the present computational study, various softwares were employed for functional and structural analysis of nsSNPs in the protein coding exons of PRSS12 (MIM# 606709) gene to determine its deleteriousness. Mutation in this gene causes Autosomal Recessive Non-Syndromic Mental Retardation. The gross bioinformatics analysis predicted seven most deleterious nsSNPs in five candidate exons i.e. 1, 6, 7, 9 and 11. Exon 9 and 11 contained two pathogenic SNPs while exon 1, 6, and 7 was surrounding one damaging nsSNP each. This study will assist the molecular geneticists to selectively sequence the candidate disease associated exons inspite of screening whole gene.