Table 4.

RYR1 Allelic Variants Discussed in This GeneReview

Class of Variant AlleleDNA Nucleotide ChangePredicted Protein Change
(Alias 1)
ReferenceReference Sequences
Benignc.2537C>Tp.Ser846LeuRobinson et al [2006]NM_000540​.2
NP_000531​.2
c.4767A>Cp.Gln1589ProRobinson et al [2006]
c.5360C>Tp.Pro1787LeuGillard et al [1992]
c.6178G>Tp.Gly2060CysGillard et al [1992]
c.7648C>Gp.Val2550LeuMonnier et al [2000]
c.10747G>Cp.Glu3583GlnRobinson et al [2006]
c.11266C>Gp.Gln3756GluBrown et al [2000]
Pathogenicc.103T>Cp.Cys35ArgLynch et al [1997]
c.487C>Tp.Arg163CysQuane et al [1993]
c.488G>Tp.Arg163LeuMonnier et al [2005]
c.742G>Ap.Gly248ArgGillard et al [1992]
c.2797G>Ap.Ala933ThrSambuughin et al [2009]
c.1021G>C or c.1021G>Ap.Gly341ArgQuane et al [1994b]
c.1201C>Tp.Arg401CysDavis et al [2002]
c.1209C>Gp.Ile403MetQuane et al [1993]
c.1565A>Cp.Tyr522SerQuane et al [1994a]
c.1654C>Tp.Arg552TrpKeating et al [1997]
c.1840C>Tp.Arg614CysGillard et al [1991]
c.1841G>Tp.Arg614LeuQuane et al [1997]
c.4055C>Gp.Ala1352GlySambuughin et al [2009]
c.6478G>Ap.Gly2160SerSambuughin et al [2009]
c.6488G>Ap.Arg2163HisManning et al [1998b]
c.6487C>Tp.Arg2163CysManning et al [1998b]
c.6502G>Ap.Val2168MetManning et al [1998b]
c.6617C>Tp.Thr2206MetManning et al [1998b]
c.7041_7043delGGAp.Glu2348del
(G2347del)
Sambuughin et al [2001a]
c.7048G>Ap.Ala2350ThrSambuughin et al [2001b]
c.7282G>Ap.Ala2428ThrRueffert et al [2002]
c.7300G>Ap.Gly2434ArgKeating et al [1994]
c.7304G>Ap.Arg2435HisZhang et al [1993]
c.7360C>Tp.Arg2454CysBrandt et al [1999]
c.7361G>Ap.Arg2454HisBarone et al [1999]
c.7373G>Ap.Arg2458HisManning et al [1998a]
c.7372C>Tp.Arg2458CysManning et al [1998a]
c.10579C>Tp.Pro3527SerFerreiro & Fardeau [2002]
c.11947C_Tp.Arg3983CysGroom et al [2011]
c.12881C>Tp.Thr4294MetSambuughin et al [2009]
c.13513G_Cp.Asp4505HisGroom et al [2011]
c.14477C>Tp.Thr4826IleBrown et al [2000]
c.14510delAp.Arg4837fsTer4839Rossi et al [2007]
c.14545G>Ap.Val4849IleJungbluth et al [2002]
c.14693T>Cp.Ile4898ThrLynch et al [1999]

Note on variant classification: Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (www​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Variant designation that does not conform to current naming conventions

From: Malignant Hyperthermia Susceptibility

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