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    Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling | American Journal of Physiology-Cell Physiology
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    1. ClingenBaseline 21 Oct 2026
      Fig. 2

      NonPatientCell Mouse cell line, EFO:0002887 "Myotubes generated from the homozygous dysgenic (mdg/mdg) mouse cell line GLT were cultured as described previously (44)."

      GeneAlteration GFP tagged point mutation transfected into mouse cells

      FunctionalEvidence Variant increased channel sensitivity to caffeine/voltage (fig. 2)

      FAVariants NM_000069.2(CACNA1S):c.3257G>A (p.Arg1086His), ClinVar ID: 17626

      NM_000445.4(PLEC):c.3719G>A (p.Arg1240His), ClinVar ID: 448061

      Experimental FunctionalAlteration NonPatientCells inferred_gene_hgnc:1397 inferred_gene_source:RefSeq UNC Biocuration Core
    2. ClingenBaseline 21 Oct 2026
      Fig. 2

      NonPatientCell Mouse cell line, EFO:0002887 "Myotubes generated from the homozygous dysgenic (mdg/mdg) mouse cell line GLT were cultured as described previously (44)."

      GeneAlteration GFP tagged point mutation transfected into mouse cells

      FunctionalEvidence Variant increased channel sensitivity to caffeine/voltage (fig. 2)

      FAVariants NM_000069.2(CACNA1S):c.3257G>A (p.Arg1086His), ClinVar ID: 17626

      NM_000445.4(PLEC):c.3719G>A (p.Arg1240His), ClinVar ID: 448061

      Experimental FunctionalAlteration NonPatientCells inferred_gene_hgnc:1397 inferred_gene_source:RefSeq UNC Biocuration Core
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    physiology.org/doi/full/10.1152/ajpcell.00173.2004