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
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
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.
