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Title

Effect of non synonymous SNP on JAK1 protein structure and subsequent function

Authors

Rozario Liza*, Sharker Tanima, Nairuz Tahsin, Morshed Md. Reaz

 

Affiliation

Department of Biochemistry and Molecular Biology, Noakhali Science and Technology University, Bangaldesh 3814

 

Email

Rozario Liza - Email: lizroz54@gmail.com; *Corresponding author

 

Article Type

Research Article

 

Date

Received September 23, 2019; Revised October 20, 2019; Accepted October 21, 2019; Published October 26, 2019

 

Abstract

JAK1 gene plays a critical role in signalling. Malfunction of JAK1 is linked to numerous human diseases ranging from chronic inflammation to cancers and autoimmune diseases. Genetic variations in JAK1 exhibit deleterious effects on gene function leading to the deregulation of signalling pathways. A comprehensive list of nsSNPs potentially affecting the structure and function of JAK1 gene is not available. We report 3 deleterious nsSNPs (F78L, Q644R and S646F) in the coding region of JAK1 with predicted structure and function linking to diseases. However, further studies are needed to validate this preliminary observation.

 

Keywords

JAK 1 gene, non synonymous SNP, structure prediction, altered function

 

Citation

Liza et al. Bioinformation 15(10): 723-729 (2019)

 

Edited by

P Kangueane

 

ISSN

0973-2063

 

Publisher

Biomedical Informatics

 

License

This is an Open Access article which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. This is distributed under the terms of the Creative Commons Attribution License.