Matches in SemOpenAlex for { <https://semopenalex.org/work/W2978155750> ?p ?o ?g. }
- W2978155750 endingPage "71" @default.
- W2978155750 startingPage "54" @default.
- W2978155750 abstract "Mutations in the SMPX gene can disrupt the regular activity of the SMPX protein, which is involved in the hearing process. Recent reports showing a link between nonsynonymous single-nucleotide polymorphisms (nsSNPs) in SMPX and hearing loss, thus classifying deleterious SNPs in SMPX will be an uphill task before designing a more extensive population study. In this study, damaging nsSNPs of SMPX from the dbSNP database were identified by using 13 bioinformatics tools. Initially, the impact of nsSNPs in the SMPX gene were evaluated through different in silico predictors; and the deleterious convergent changes were analyzed by energy-minimization-guided residual network analysis. In addition, the pathogenic effects of mutations in SMPX-mediated protein-protein interactions were also characterized by structural modeling and binding energy calculations. A total of four mutations (N19D, A29T, K54N, and S71L) were found to be highly deleterious by all the tools, which are located at highly conserved regions. Furthermore, all four mutants showed structural alterations, and the communities of amino acids for mutant proteins were readily changed, compared to the wild-type. Among them, A29T (rs772775896) was revealed as the most damaging nsSNP, which caused significant structural deviation of the SMPX protein, as a result reducing the binding affinity to other functional partners. These findings reflect the computational insights into the deleterious role of nsSNPs in SMPX, which might be helpful for subjecting wet-lab confirmatory analysis." @default.
- W2978155750 created "2019-10-10" @default.
- W2978155750 creator A5036379817 @default.
- W2978155750 creator A5053463003 @default.
- W2978155750 creator A5057988421 @default.
- W2978155750 creator A5069000246 @default.
- W2978155750 creator A5073926489 @default.
- W2978155750 creator A5086415841 @default.
- W2978155750 date "2019-10-03" @default.
- W2978155750 modified "2023-09-23" @default.
- W2978155750 title "In silico analysis of nonsynonymous single‐nucleotide polymorphisms (nsSNPs) of the <i>SMPX</i> gene" @default.
- W2978155750 cites W1046470221 @default.
- W2978155750 cites W1521324513 @default.
- W2978155750 cites W1563940013 @default.
- W2978155750 cites W1951397395 @default.
- W2978155750 cites W1962275796 @default.
- W2978155750 cites W1971421925 @default.
- W2978155750 cites W1972452232 @default.
- W2978155750 cites W1973035681 @default.
- W2978155750 cites W1974116969 @default.
- W2978155750 cites W1980740976 @default.
- W2978155750 cites W1985849948 @default.
- W2978155750 cites W1986891519 @default.
- W2978155750 cites W1987134040 @default.
- W2978155750 cites W1995322440 @default.
- W2978155750 cites W2005614916 @default.
- W2978155750 cites W2007709221 @default.
- W2978155750 cites W2010595044 @default.
- W2978155750 cites W2013028402 @default.
- W2978155750 cites W2014446996 @default.
- W2978155750 cites W2018748094 @default.
- W2978155750 cites W2023350260 @default.
- W2978155750 cites W2024405748 @default.
- W2978155750 cites W2026460267 @default.
- W2978155750 cites W2027270584 @default.
- W2978155750 cites W2029475003 @default.
- W2978155750 cites W2032018084 @default.
- W2978155750 cites W2034528478 @default.
- W2978155750 cites W2037312364 @default.
- W2978155750 cites W2046077362 @default.
- W2978155750 cites W2048212555 @default.
- W2978155750 cites W2048653487 @default.
- W2978155750 cites W2052996255 @default.
- W2978155750 cites W2057862956 @default.
- W2978155750 cites W2059145105 @default.
- W2978155750 cites W2060809301 @default.
- W2978155750 cites W2062252710 @default.
- W2978155750 cites W2067763399 @default.
- W2978155750 cites W2069197202 @default.
- W2978155750 cites W2070722393 @default.
- W2978155750 cites W2076048958 @default.
- W2978155750 cites W2080039356 @default.
- W2978155750 cites W2083799886 @default.
- W2978155750 cites W2085098267 @default.
- W2978155750 cites W2089335658 @default.
- W2978155750 cites W2091710329 @default.
- W2978155750 cites W2093083290 @default.
- W2978155750 cites W2093298785 @default.
- W2978155750 cites W2098425296 @default.
- W2978155750 cites W2099564671 @default.
- W2978155750 cites W2099589970 @default.
- W2978155750 cites W2100064668 @default.
- W2978155750 cites W2100867326 @default.
- W2978155750 cites W2102993309 @default.
- W2978155750 cites W2103459989 @default.
- W2978155750 cites W2109372707 @default.
- W2978155750 cites W2111326065 @default.
- W2978155750 cites W2111427849 @default.
- W2978155750 cites W2112480941 @default.
- W2978155750 cites W2113002325 @default.
- W2978155750 cites W2114251106 @default.
- W2978155750 cites W2116099439 @default.
- W2978155750 cites W2121519777 @default.
- W2978155750 cites W2122732537 @default.
- W2978155750 cites W2127981150 @default.
- W2978155750 cites W2132540199 @default.
- W2978155750 cites W2135503340 @default.
- W2978155750 cites W2136513422 @default.
- W2978155750 cites W2141481588 @default.
- W2978155750 cites W2143238378 @default.
- W2978155750 cites W2145786566 @default.
- W2978155750 cites W2148024805 @default.
- W2978155750 cites W2149195137 @default.
- W2978155750 cites W2152279845 @default.
- W2978155750 cites W2153870676 @default.
- W2978155750 cites W2154319440 @default.
- W2978155750 cites W2155201844 @default.
- W2978155750 cites W2155988965 @default.
- W2978155750 cites W2157355835 @default.
- W2978155750 cites W2158116492 @default.
- W2978155750 cites W2158714788 @default.
- W2978155750 cites W2163171508 @default.
- W2978155750 cites W2163721943 @default.
- W2978155750 cites W2164004777 @default.
- W2978155750 cites W2167257571 @default.
- W2978155750 cites W2168621448 @default.
- W2978155750 cites W2169243280 @default.
- W2978155750 cites W2171198485 @default.