{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T08:30:42Z","timestamp":1778747442606,"version":"3.51.4"},"reference-count":52,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,5,24]],"date-time":"2016-05-24T00:00:00Z","timestamp":1464048000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["13JC1401403"],"award-info":[{"award-number":["13JC1401403"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Chem Biol Drug Des"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:p>The <jats:italic><jats:styled-content style=\"fixed-case\">hERCC<\/jats:styled-content>2<\/jats:italic> gene is an important <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> repair molecule for initiating Cutaneous melanoma (<jats:styled-content style=\"fixed-case\">CM<\/jats:styled-content>). Therefore, it is advisable to study the possible functional <jats:styled-content style=\"fixed-case\">SNV<\/jats:styled-content>s in <jats:italic><jats:styled-content style=\"fixed-case\">hERCC<\/jats:styled-content>2<\/jats:italic>. To achieve this goal, we collected total 2, 253 <jats:styled-content style=\"fixed-case\">SNV<\/jats:styled-content>s in <jats:italic><jats:styled-content style=\"fixed-case\">hERCC<\/jats:styled-content>2<\/jats:italic>from the <jats:styled-content style=\"fixed-case\">EMBL<\/jats:styled-content> website, of which 303 are non\u2010synonymous single nucleotide variants (ns<jats:styled-content style=\"fixed-case\">SNV<\/jats:styled-content>s). Then, <jats:styled-content style=\"fixed-case\">SIFT<\/jats:styled-content> and PolyPhen were used to predict the damaging ns<jats:styled-content style=\"fixed-case\">SNV<\/jats:styled-content>s, and four ns<jats:styled-content style=\"fixed-case\">SNV<\/jats:styled-content>s (rs368866996, rs377739017, rs370819591, and rs121913022) were suggested to be damaging mutations. Since I\u2010Mutant2.0 showed a decrease in stability for the mutants containing each of the four ns<jats:styled-content style=\"fixed-case\">SNV<\/jats:styled-content>s, a 3D protein structure was modeled. Based on the comparison of the energy after minimization, <jats:styled-content style=\"fixed-case\">RMSD<\/jats:styled-content> and stabilizing residues between the native and mutant proteins' structure, rs121913022 was proposed to be the most damaging variant among the ns<jats:styled-content style=\"fixed-case\">SNV<\/jats:styled-content>s in <jats:italic><jats:styled-content style=\"fixed-case\">hERCC<\/jats:styled-content>2<\/jats:italic> gene by decreasing the stability of protein. The mutant G713R of <jats:styled-content style=\"fixed-case\">hERCC<\/jats:styled-content>2 protein caused by rs121913022 was found to have less expression level than native <jats:styled-content style=\"fixed-case\">hERCC<\/jats:styled-content>2 protein in melanoma cells. These results suggest that rs121913022 may have potentially important clinical and drug target implications.<\/jats:p>","DOI":"10.1111\/cbdd.12772","type":"journal-article","created":{"date-parts":[[2016,4,17]],"date-time":"2016-04-17T07:56:40Z","timestamp":1460879800000},"page":"441-450","source":"Crossref","is-referenced-by-count":5,"title":["Identification of Damaging ns<scp>SNV<\/scp>s in Human<i><scp>ERCC<\/scp>2<\/i> Gene"],"prefix":"10.1111","volume":"88","author":[{"given":"Shuo","family":"Fang","sequence":"first","affiliation":[{"name":"Department of Plastic and Reconstruction Shanghai Changhai Hospital Affiliated to Second Military Medical University Shanghai 200433 China"},{"name":"Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education) Shanghai Key Laboratory of Psychotic Disorders (No. 13dz2260500) Bio\u2010X Institutes Shanghai Jiaotong University Shanghai 200240 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