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An <jats:italic>in silico<\/jats:italic> approach was used to analyse the physicochemical and structural effects of 47 disease\u2010associated variants of MVK. A further 20 variants, which are present in human genome databases, were also analysed. Variants associated with MA are clustered into a \u201chotspot\u201d consisting of residues 8\u201335 and 234\u2013338 and tended to result in a prediction of severely reduced protein stability. Four of the uncharacterised variants, p.H24P, p.G198R, p. R253W, and p.G335S, were likely to be associated with MA. This method could be used as the basis for initial predictions of severity when new MVK variants are discovered.<\/jats:p>","DOI":"10.1111\/ahg.12126","type":"journal-article","created":{"date-parts":[[2015,9,30]],"date-time":"2015-09-30T03:53:05Z","timestamp":1443585185000},"page":"451-459","source":"Crossref","is-referenced-by-count":21,"title":["<i>In Silico<\/i> Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency"],"prefix":"10.1111","volume":"79","author":[{"given":"Claire","family":"Browne","sequence":"first","affiliation":[{"name":"School of Biological Sciences Queen's University Belfast, Medical Biology Centre  97 Lisburn Road Belfast BT9 7BL UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David J.","family":"Timson","sequence":"additional","affiliation":[{"name":"School of Biological Sciences Queen's University Belfast, Medical Biology Centre  97 Lisburn Road Belfast BT9 7BL UK"},{"name":"Institute for Global Food Security Queen's University Belfast  18\u201030 Malone Road Belfast BT9 5BN UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,9,29]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0720s76"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gki372"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1003440"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(91)90045-U"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pro.5560020104"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkm238"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0010083"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2007.03.016"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21047"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-14-S3-S2"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btl423"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gki375"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.08.003"},{"issue":"2","key":"e_1_2_7_16_1","article-title":"iStable: Off\u2010the\u2010shelf predictor integration for predicting protein stability changes","volume":"14","author":"Chen C. 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