The SLURP1 (secreted LY6/urokinase type plasminogen activator receptor related protein-1) belongs to the gene family of urokinase, a type of plasminogen activator receptor (uPAR). Mutations in the SLURP1 have been reported to cause serious genetic problems of skin, Mal De Meleda, and malignancies. With the advancement of computational tools, it became possible to predict the potential impact of gene variants on the structure and function of protein. Therefore, in present study, we aimed to perform in-silico analyses of the disease causing SLURP1 mutations using online tools. In-total, 21 variants occurring in coding and non-coding regions of SLURP1 were found from public databases. In curated data, we have found 57.14% (12/21) missense, 23.81% (5/21) splice site, 9.52% (2/21) nonsense, 4.76% (1/21) deletion, and 4.76% (1/21) frameshift mutations. Moreover, heterogeneity in genotypes and phenotypes, along with 7 hotspot points in SLURP1 has been noted. In-silico analyses of the subjected variants have depicted a range of pathogenicity by combinatorial predictions of different tools from being lowly to highly pathogenic. Thus, the present study paves a platform to link computational analyses of mutations for important regulatory genes that can be undertaken for their phenotypes and their correlation with the disease status in case control studies.
© 2019 by the Association of Clinical Scientists, Inc.