Abstract
The MLH1 gene responsible for colon cancer has been examined to identify functional consequences of single-nucleotide polymorphisms (SNPs). 16 SNPs have been identified in the MLH1 gene in which all are found to be nonsynonymous. Non synymous SNPs are relevant in many of the human inherited diseases since they change the aminoacid sequence of the protein. 56% of the identified nsSNPs have been reported as damaging. In the analysis of SNPs using SIFT, UTRscan, FastSNP and PolyPhen-2, it was recognized that rs41295284 and rs35001569 were responsible for the alteration in levels of expression. It has been concluded that among all SNPs of MLH1 gene, the mutation in rs41295284 and rs35001569 have the most significant effect on functional variation. Key words: Single nucleotide polymorphism, non-synonymous, colon cancer.
Highlights
A single nucleotide polymorphism (SNP) is a source variance in a genome
A Singlenucleotide polymorphisms (SNPs) in a coding region may have two different effects on the resulting protein: Synonymous, the substitution causes no amino acid change to the protein it produces; non-synonymous, the substitution results in an alteration of the encoded amino acid
One half of all coding sequence SNPs result in non-synonymous codon changes (Smith, 2002)
Summary
A single nucleotide polymorphism (SNP) is a source variance in a genome. A SNP is a single base mutation in DNA. SNPs are the most simple form and most common source of genetic polymorphism in the human genome (90% of all human DNA polymorphisms (Smith, 2002). A SNP in a coding region may have two different effects on the resulting protein: Synonymous, the substitution causes no amino acid change to the protein it produces; non-synonymous, the substitution results in an alteration of the encoded amino acid. One half of all coding sequence SNPs result in non-synonymous codon changes (Smith, 2002). A non-synonymous single nucleotide polymorphism (nsSNP) occurring in a coding gene may cause an amino acid substitution in the corresponding protein product, affecting the phenotype of the host organism. Non-synonymous variants constitute more than 50% of the mutations known to be involved in human inherited diseases (Kumar et al, 2009)
Sign-in/Register to view highlights & summary 
Published Version (
Free)
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call