OMIA 000621-9796 : Malignant hyperthermia in Equus caballus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|RYR1||ryanodine receptor 1 (skeletal)||Equus caballus||10||NC_009153.3 (9633620..9739087)||RYR1||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|American Quarter Horse||Malignant hyperthermia||RYR1||missense||Naturally occurring variant||10||c.7360C>G||p.(R2454G)||2004||15318347|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2009||Aleman, M., Nieto, JE., Magdesian, KG. :|
|Malignant hyperthermia associated with ryanodine receptor 1 (C7360G) mutation in Quarter Horses. J Vet Intern Med 23:329-34, 2009. Pubmed reference: 19220734. DOI: 10.1111/j.1939-1676.2009.0274.x.|
|McCue, ME., Valberg, SJ., Jackson, M., Borgia, L., Lucio, M., Mickelson, JR. :|
|Polysaccharide storage myopathy phenotype in quarter horse-related breeds is modified by the presence of an RYR1 mutation. Neuromuscul Disord 19:37-43, 2009. Pubmed reference: 19056269. DOI: 10.1016/j.nmd.2008.10.001.|
|Nieto, JE., Aleman, M. :|
|A Rapid Detection Method for the Ryanodine Receptor 1 (C7360G) Mutation in Quarter Horses. J Vet Intern Med :, 2009. Pubmed reference: 19298609. DOI: 10.1111/j.1939-1676.2009.0281.x.|
|2005||Aleman, M., Brosnan, RJ., Williams, DC., LeCouteur, RA., Imai, A., Tharp, BR., Steffey, EP. :|
|Malignant hyperthermia in a horse anesthetized with halothane. J Vet Intern Med 19:363-6, 2005. Pubmed reference: 15954554.|
|2004||Aleman, M., Riehl, J., Aldridge, BM., LeCouteur, RA., Stott, JL., Pessah, IN. :|
|Association of a mutation in the ryanodine receptor 1 gene with equine malignant hyperthermia. Muscle Nerve 30:356-65, 2004. Pubmed reference: 15318347. DOI: 10.1002/mus.20084.|
|1992||Chowdhary, B.P., Harbitz, I., Davies, W., Gustavsson, I. :|
|Localization of the Calcium Release Channel Gene in Cattle and Horse by In situ Hybridization - Evidence of a Conserved Synteny with Glucose Phosphate Isomerase Animal Genetics 23:43-50, 1992. Pubmed reference: 1315127.|
- Created by Frank Nicholas on 10 Sep 2005
- Changed by Frank Nicholas on 11 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 17 Oct 2012