OMIA 001451-9913 : Congenital muscular dystonia 2 in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LOC528050||sodium- and chloride-dependent glycine transporter 2||Bos taurus||29||NC_037356.1 (24373268..24316601)||LOC528050||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|
|Belgian Blue||Congenital muscular dystonia 2||LOC528050||missense||UMD3.1||29||g.24610495T>C||c.809T>C||p.L270P||2008||18344998||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)|
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.
|2012||Gill, J.L., James, V.M., Carta, E., Harris, D., Topf, M., Scholes, S.F., Hateley, G., Harvey, R.J. :|
|Identification of congenital muscular dystonia 2 associated with an inherited GlyT2 defect in Belgian Blue cattle from the United Kingdom. Anim Genet 43:267-70, 2012. Pubmed reference: 22486497. DOI: 10.1111/j.1365-2052.2011.02255.x.|
|2008||Charlier, C., Coppieters, W., Rollin, F., Desmecht, D., Agerholm, JS., Cambisano, N., Carta, E., Dardano, S., Dive, M., Fasquelle, C., Frennet, JC., Hanset, R., Hubin, X., Jorgensen, C., Karim, L., Kent, M., Harvey, K., Pearce, BR., Simon, P., Tama, N., Nie, H., Vandeputte, S., Lien, S., Longeri, M., Fredholm, M., Harvey, RJ., Georges, M. :|
|Highly effective SNP-based association mapping and management of recessive defects in livestock. Nat Genet 40:449-54, 2008. Pubmed reference: 18344998. DOI: 10.1038/ng.96.|
- Created by Frank Nicholas on 30 Mar 2008
- Changed by Frank Nicholas on 07 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 22 Aug 2012
- Changed by Frank Nicholas on 21 May 2013
- Changed by Frank Nicholas on 07 Jun 2013
- Changed by Frank Nicholas on 16 Aug 2013
- Changed by Frank Nicholas on 12 Dec 2017