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Mutations c.550G>A, c.1396C>A, c.1396C>T, c.1397G>T, and c.1418T>G have been reported previously [13-17]. c.352A>G occurred in two families, c.1340T>C in three families, and c.1396C>A in two families. The S6 Kinase remaining 12 missense mutations were distinct for 12 families. Except for mutations involving the reactive bond (c.1396C>A, c.1396C>T, and c.1397G>T), the other twelve variants were evaluated for evolutionary conservation by ClustalW and predicted potential impact on protein structure and function using the PolyPhen-2, SIFT, and PSIPRED. It showed that all of them occurred in well-conserved amino acid residue. With the exception of p.T118A, all the other concerned variants were predicted as deleterious mutations. The conservation alignment and prediction results were summarized in supplements (Table S2). All these variants were absent in controls. Based on these, we classified them as missense mutations. In two patients, we detected c.806_808insCAC (p.Thr271ins) and 813_815delCAA (p.Asn272del) respectively (see Table?2). The latter one has been previously reported [13]. Seven SNPs were tested in this study (shown in Table?3). AZD3965 Four of them (3248T>C, 3493T>C, 15193A>G, 18012G>A) have been indexed in SNP database �C HapMap (http://hapmap.ncbi.nlm.nih.gov/) �C which are related to Han Chinese, while the other three (g.738?G>A, g.4573?G>A, and g.8316 T>C) were submitted by us and have been incorporated in dbSNP recently. As noted in the method, to quantify clinical manifestation severity, we established a severity scoring system. Clinical severity score was performed on patients enrolled in groups A and B. The clinical data before treatment were from medical records, some of which were many years old. For this reason, complete data sets were not possible, and 5 of 38 medical records utilized in groups A and B had missed clinical information. In addition, only 18 records had the laboratory report of C1-INH http://www.selleckchem.com/products/pimavanserin.html function available. The original laboratory results were shown in Table?1. Differences of severity score and the levels of C1-INH antigen and function before treatment were evaluated by statistical analysis (two-sample t-test) (results in Table?4). The level of sC1-INH antigen (P?=?0.01793,