Computational analysis unravels novel destructive single nucleotide polymorphisms in the non-synonymous region of human caveolin gene

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• 作者：Nitin Chitranshi^a ; ^{nitinchitranshi@gmail.com} ; Yogita Dheer^a ; Roshana Vander Wall^a ; Veer Gupta^b ; Mojdeh Abbasi^a ; Stuart L. Graham^a ; ^c ; Vivek Gupta^a
• 关键词：SNP ; Single nuncleotide polymorphism ; nsSNP ; non-synonymous single nucleotide polymorphism ; Cav ; caveolin ; IGFBP-5 ; insulin-like growth factor binding protein-5 ; CKD ; chronic kidney diseases ; iNOS ; inducible nitric oxide synthase ; HIF-1α ; hypoxia inducible factor-1 alpha ; IFN-γ ; interferon-gamma ; IL-6 ; interleukin 6 ; H3K9me3 ; histone H3 lysine 9 trimethylation ; RGCs ; retinal ganglion cells ; OMIM ; Online Mendelian Inheritance in Man ; dbSNP ; database of single nucleotide polymorphism ; UNIPROT ; uni
• 刊名：Gene Reports
• 出版年：2017
• 出版时间：March 2017
• 年：2017
• 卷：6
• 期：Complete
• 页码：142-157
• 全文大小：1491 K
• 卷排序：6

文摘

Number of diseases are associated with genetic polymorphism in caveolin gene. The nsSNP in CAV3 gene that may have a damaging effect on the protein stability. In total 15 SNPs of CAV3 were predicted deleterious.