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

被引：1
|
作者：
Liza, Rozario [1 ]
Tanima, Sharker [1 ]
Tahsin, Nairuz [1 ]
Reaz, Morshed Md. [1 ]
机构：
[1] Noakhali Sci & Technol Univ, Dept Biochem & Mol Biol, Noakhali 3814, Bangladesh
来源：
BIOINFORMATION | 2019年 / 15卷 / 10期
关键词：
JAK1; gene; non synonymous SNP; structure prediction; altered function; MUTATIONS; DISEASE;
D O I：
10.6026/97320630015723
中图分类号：
Q [生物科学];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
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 JAKI 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.
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页码：723 / 728
页数：6
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