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

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...

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Detalles Bibliográficos
Autores principales: Liza, Rozario, Tanima, Sharker, Tahsin, Nairuz, Reaz, Morshed Md
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Biomedical Informatics 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900321/
https://www.ncbi.nlm.nih.gov/pubmed/31831954
http://dx.doi.org/10.6026/97320630015723
Descripción
Sumario: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.

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