OMIA 002141-9796 : Myositis, immune-mediated in Equus caballus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MYH1||myosin, heavy chain 1, skeletal muscle, adult||Equus caballus||11||NC_009154.3 (53350918..53325909)||MYH1||Homologene, Ensembl, NCBI gene|
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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.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Quarter Horse||Immune-mediated myositis||MYH1||missense||EquCab3.0||11||g.53345548T>C||p.E321G||The location of this likely causal variant was given as chr11:52,993,878T>C by Finno et al. (2018) in relation to the EquCab2.0 assembly. Applying NCBI's remap gives the EquCab3.0 coordinate as chr11:53,345,548||2018||29510741|
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.
|2019||Gianino, G.M., Valberg, S.J., Perumbakkam, S., Henry, M.L., Gardner, K., Penedo, C., Finno, C.J., Gianino, G.M., Valberg, S.J., Perumbakkam, S., Henry, M.L., Gardner, K., Penedo, C., Finno, C.J. :|
|Prevalence of the E321G MYH1 variant for immune-mediated myositis and nonexertional rhabdomyolysis in performance subgroups of American Quarter Horses. J Vet Intern Med :, 2019. Pubmed reference: 30623495. DOI: 10.1111/jvim.15393.|
|2018||Durward-Akhurst, S.A., Valberg, S.J. :|
|Immune-Mediated Muscle Diseases of the Horse. Vet Pathol 55:68-75, 2018. Pubmed reference: 28129093. DOI: 10.1177/0300985816688755.|
|Finno, C.J., Gianino, G., Perumbakkam, S., Williams, Z.J., Bordbari, M.H., Gardner, K.L., Burns, E., Peng, S., Durward-Akhurst, S.A., Valberg, S.J. :|
|A missense mutation in MYH1 is associated with susceptibility to immune-mediated myositis in Quarter Horses. Skelet Muscle 8:7, 2018. Pubmed reference: 29510741. DOI: 10.1186/s13395-018-0155-0.|
|2007||Lewis, S.S., Valberg, S.J., Nielsen, I.L. :|
|Suspected immune-mediated myositis in horses. J Vet Intern Med 21:495-503, 2007. Pubmed reference: 17552457.|
- Created by Frank Nicholas on 09 Mar 2018
- Changed by Frank Nicholas on 09 Mar 2018
- Changed by Frank Nicholas on 05 Feb 2019