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...

Descripción completa

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
_version_ 1783477331972587520
author Liza, Rozario
Tanima, Sharker
Tahsin, Nairuz
Reaz, Morshed Md
author_facet Liza, Rozario
Tanima, Sharker
Tahsin, Nairuz
Reaz, Morshed Md
author_sort Liza, Rozario
collection PubMed
description 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.
format Online
Article
Text
id pubmed-6900321
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher Biomedical Informatics
record_format MEDLINE/PubMed
spelling pubmed-69003212019-12-12 Effect of non-synonymous SNP on JAK1 protein structure and subsequent function Liza, Rozario Tanima, Sharker Tahsin, Nairuz Reaz, Morshed Md Bioinformation Research Article 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. Biomedical Informatics 2019-10-26 /pmc/articles/PMC6900321/ /pubmed/31831954 http://dx.doi.org/10.6026/97320630015723 Text en © 2019 Biomedical Informatics http://creativecommons.org/licenses/by/3.0/ 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.
spellingShingle Research Article
Liza, Rozario
Tanima, Sharker
Tahsin, Nairuz
Reaz, Morshed Md
Effect of non-synonymous SNP on JAK1 protein structure and subsequent function
title Effect of non-synonymous SNP on JAK1 protein structure and subsequent function
title_full Effect of non-synonymous SNP on JAK1 protein structure and subsequent function
title_fullStr Effect of non-synonymous SNP on JAK1 protein structure and subsequent function
title_full_unstemmed Effect of non-synonymous SNP on JAK1 protein structure and subsequent function
title_short Effect of non-synonymous SNP on JAK1 protein structure and subsequent function
title_sort effect of non-synonymous snp on jak1 protein structure and subsequent function
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900321/
https://www.ncbi.nlm.nih.gov/pubmed/31831954
http://dx.doi.org/10.6026/97320630015723
work_keys_str_mv AT lizarozario effectofnonsynonymoussnponjak1proteinstructureandsubsequentfunction
AT tanimasharker effectofnonsynonymoussnponjak1proteinstructureandsubsequentfunction
AT tahsinnairuz effectofnonsynonymoussnponjak1proteinstructureandsubsequentfunction
AT reazmorshedmd effectofnonsynonymoussnponjak1proteinstructureandsubsequentfunction

Ejemplares similares