CIVILICA We Respect the Science
Publisher of Iranian Journals and Conference Proceedings

Bioinformatic Analysis of Pathogenic Missense Mutations of MLH1

Credit to Download: 0 | Page Numbers 2 | Abstract Views: 54
Year: 2018
COI code: CIGS15_382
Paper Language: English

How to Download This Paper

For Downloading the Fulltext of CIVILICA papers please visit the orginal Persian Section of website.

Authors Bioinformatic Analysis of Pathogenic Missense Mutations of MLH1

Sheida Ebrahimi - Department of genetic, Faculty of biology, University of Yazd, Iran
Mohaddese Ebrahimi - Department of Genetic, Faculty of Biology, Mashhad Islamic Azad University,Iran


Abstract: MLH1 gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human mismatch repair gene. The nature of amino acid substitutions in invariant sites will condition the effect on protein structure, while variable positions can be analysed for residues that can be exchanged without detrimental effects.Here we analyse three SNP to find their pathogenic effect. Each mutant were compared with the corresponding wild-type structures. 1) rs63750792NM_001258271.1:c.83C> T XP_005265218.1:p.Pro28Leu 2) rs63750823 NM_000249.3:c.67G> A, XP_005265218.1:p.Glu23Ter 3) rs63751012 NM_000249.3:c.109G> A XP_005265218.1:p.Glu37Ter In rs63750792 Proline, changed to Leucine. In the wild type proline has 2 bond with Alanine (A) in position 31, but in the mutated form the bond are different. The replaced amino acid, has a bond to Isoleusine (I) 32 and a bond with Alanine (A) 31. This SNP is related to Lynch syndrome and hereditary cancer-predisposing syndrome.In rs63750823 Glutamine, changed to Threonine. In the wild type Glutamine has one bond with Glutamine (Q) 26, Isoleucine (I) 19, and Alanine (A) 20. In mutated form, Threonine has a bond with Glutamine (Q) 26 and Alanine (A) 20, but it has two bonds with Isoleucine (I) 19.This SNP is associated with Lynch syndrome and HNPCC.In rs63751012 amino acid in the wild type, Glutamine (E) has a bond with aspartic acid (D) 41 and two bonds with Lysine (K) 33. The mutated form has same bonds as wild type, but it causes alteration in protein structure. This alteration maybe a reason of causing HNPCC.


HNPCC, Mutation, Pathogen, Analyze

Perma Link
COI code: CIGS15_382

how to cite to this paper:

If you want to refer to this article in your research, you can easily use the following in the resources and references section:
Ebrahimi, Sheida & Mohaddese Ebrahimi, 2018, Bioinformatic Analysis of Pathogenic Missense Mutations of MLH1, The Third International and 15th National Genetics Congress, تهران, انجمن علمي ژنتيك ايران, the text, wherever referred to or an achievement of this article is mentioned, after mentioning the article, inside the parental, the following specifications are written.
First Time: (Ebrahimi, Sheida & Mohaddese Ebrahimi, 2018)
Second and more: (Ebrahimi & Ebrahimi, 2018)
For a complete overview of how to citation please review the following CIVILICA Guide (Citation)