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Table 3 Double mutations of the ryanodine receptor type 1

From: Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study

          In vitro contracture test   
            Contracture     Threshold   
No. of patients in this study Exon Nucleotide Substitution Causative mutation? PolyPhen2 predictions Sift predictions Mutation taster predictions References 2 vol% halothane [mN] 2 mmoll-1caffeine [mN] halothane [vol%] caffeine [mmoll-1] CGS
1 11 c.1100G>T p.R367L No + - + This study, T. Girard 20.0 4.5 1.0 1.5 48
65 c.9649T>C p.S3217P No     Levano et al. 2009 [38]
1 8 c.677T>A p.M226K No     Robinson et al. 2006 [6] 53.0 24.0 0.5 0.5 38
28 c.4024A>G p.S1342G No     Levano et al. 2009 [39]
1 44 c.7085A>G p.E2362G No     Galli et al. 2006 [30] 56.0 57.0 0.5 0.5 35
93 c.13513G>C p.D4505H No     Groom et al. 2011 [50]
1 29 c.4178A>G p.K1393R No     Vukcevic et al. 2010 [51] 15.0 12.0 0.5 1.5 35
  98 c.14210G>A p.R4737Q No     Monnier et al. 2005 [49]      
  1. In this study four patients carried a double mutation of the ryanodine receptor type 1 (RyR1). These patients had marked outcomes in the in vitro contracture tests but clinical grading scales were avarage (mean: 39.00 points). Due to the small number of cases a statistical analysis was not performed. Novel mutations (n = 1) are highlighted (bold). CGS = clinical grading scale.