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• W2047072845 endingPage "30" @default.
• W2047072845 startingPage "30" @default.
• W2047072845 abstract "In this study, instead of current biochemical methods, the effects of deleterious amino acid substitutions in F8 and F9 gene upon protein structure and function were assayed by means of computational methods and information from the databases. Deleterious substitutions of F8 and F9 are responsible for Haemophilia A and Haemophilia B which is the most common genetic disease of coagulation disorders in blood. Yet, distinguishing deleterious variants of F8 and F9 from the massive amount of nonfunctional variants that occur within a single genome is a significant challenge.We performed an in silico analysis of deleterious mutations and their protein structure changes in order to analyze the correlation between mutation and disease. Deleterious nsSNPs were categorized based on empirical based and support vector machine based methods to predict the impact on protein functions. Furthermore, we modeled mutant proteins and compared them with the native protein for analysis of protein structure stability.Out of 510 nsSNPs in F8, 378 nsSNPs (74%) were predicted to be 'intolerant' by SIFT, 371 nsSNPs (73%) were predicted to be 'damaging' by PolyPhen and 445 nsSNPs (87%) as 'less stable' by I-Mutant2.0. In F9, 129 nsSNPs (78%) were predicted to be intolerant by SIFT, 131 nsSNPs (79%) were predicted to be damaging by PolyPhen and 150 nsSNPs (90%) as less stable by I-Mutant2.0. Overall, we found that I-Mutant which emphasizes support vector machine based method outperformed SIFT and PolyPhen in prediction of deleterious nsSNPs in both F8 and F9.The models built in this work would be appropriate for predicting the deleterious amino acid substitutions and their functions in gene regulation which would be useful for further genotype-phenotype researches as well as the pharmacogenetics studies. These in silico tools, despite being helpful in providing information about the nature of mutations, may also function as a first-pass filter to determine the substitutions worth pursuing for further experimental research in other coagulation disorder causing genes." @default.
• W2047072845 created "2016-06-24" @default.
• W2047072845 creator A5004882772 @default.
• W2047072845 date "2012-01-01" @default.
• W2047072845 modified "2023-10-17" @default.
• W2047072845 title "In Silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B" @default.
• W2047072845 cites W103175032 @default.
• W2047072845 cites W104301808 @default.
• W2047072845 cites W105814260 @default.
• W2047072845 cites W1498475447 @default.
• W2047072845 cites W1515002917 @default.
• W2047072845 cites W1541664337 @default.
• W2047072845 cites W1592264493 @default.
• W2047072845 cites W1693782387 @default.
• W2047072845 cites W1735884017 @default.
• W2047072845 cites W175175572 @default.
• W2047072845 cites W1757295618 @default.
• W2047072845 cites W1929159186 @default.
• W2047072845 cites W1952275500 @default.
• W2047072845 cites W1956569448 @default.
• W2047072845 cites W1957247581 @default.
• W2047072845 cites W1966078827 @default.
• W2047072845 cites W1966086398 @default.
• W2047072845 cites W1966194351 @default.
• W2047072845 cites W1970057246 @default.
• W2047072845 cites W1970858946 @default.
• W2047072845 cites W1971513339 @default.
• W2047072845 cites W1976452565 @default.
• W2047072845 cites W1976499671 @default.
• W2047072845 cites W1978707784 @default.
• W2047072845 cites W1978856226 @default.
• W2047072845 cites W1980740976 @default.
• W2047072845 cites W1982597966 @default.
• W2047072845 cites W1984447818 @default.
• W2047072845 cites W1985849948 @default.
• W2047072845 cites W1986890987 @default.
• W2047072845 cites W1989860750 @default.
• W2047072845 cites W1992192767 @default.
• W2047072845 cites W1994568170 @default.
• W2047072845 cites W1994686336 @default.
• W2047072845 cites W1995648971 @default.
• W2047072845 cites W1999075349 @default.
• W2047072845 cites W1999784652 @default.
• W2047072845 cites W1999934645 @default.
• W2047072845 cites W2001087902 @default.
• W2047072845 cites W2001546511 @default.
• W2047072845 cites W2002096402 @default.
• W2047072845 cites W200415659 @default.
• W2047072845 cites W2004306990 @default.
• W2047072845 cites W2004674262 @default.
• W2047072845 cites W2005802728 @default.
• W2047072845 cites W2008708467 @default.
• W2047072845 cites W2010056406 @default.
• W2047072845 cites W2010720786 @default.
• W2047072845 cites W2012591885 @default.
• W2047072845 cites W2013273391 @default.
• W2047072845 cites W2016812060 @default.
• W2047072845 cites W2021283345 @default.
• W2047072845 cites W2023215572 @default.
• W2047072845 cites W2023790868 @default.
• W2047072845 cites W2026402971 @default.
• W2047072845 cites W2029463643 @default.
• W2047072845 cites W2037495807 @default.
• W2047072845 cites W2038830862 @default.
• W2047072845 cites W2040909391 @default.
• W2047072845 cites W2041164809 @default.
• W2047072845 cites W2041451176 @default.
• W2047072845 cites W2042366680 @default.
• W2047072845 cites W2044573154 @default.
• W2047072845 cites W2046535273 @default.
• W2047072845 cites W2047761397 @default.
• W2047072845 cites W2048981679 @default.
• W2047072845 cites W2049748298 @default.
• W2047072845 cites W2053128936 @default.
• W2047072845 cites W2053763800 @default.
• W2047072845 cites W2054752409 @default.
• W2047072845 cites W2054763629 @default.
• W2047072845 cites W2062795483 @default.
• W2047072845 cites W2063274819 @default.
• W2047072845 cites W2066361805 @default.
• W2047072845 cites W2069801481 @default.
• W2047072845 cites W2071486470 @default.
• W2047072845 cites W2073229224 @default.
• W2047072845 cites W2077921152 @default.
• W2047072845 cites W2078050344 @default.
• W2047072845 cites W2078280056 @default.
• W2047072845 cites W2083607907 @default.
• W2047072845 cites W2084591437 @default.
• W2047072845 cites W2085745830 @default.
• W2047072845 cites W2085948790 @default.
• W2047072845 cites W2086202135 @default.
• W2047072845 cites W2086465071 @default.
• W2047072845 cites W2087197362 @default.
• W2047072845 cites W2088282012 @default.
• W2047072845 cites W2089903296 @default.
• W2047072845 cites W2090154865 @default.
• W2047072845 cites W2092813426 @default.
• W2047072845 cites W2093003195 @default.

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