OMIA 001716-9913 : Ehlers-Danlos syndrome, Holstein variant in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|EPYC||epiphycan||Bos taurus||5||NC_037332.1 (20885187..20843099)||EPYC||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.
|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|
|Holstein||Ehlers-Danlos syndrome, Holstein variant||EPYC||missense||UMD3.1||5||g.20922527G>T||c.258G>T||p.S87N||1999||10357109||Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446|
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.
|2014||Halper, J. :|
|Connective tissue disorders in domestic animals. Adv Exp Med Biol 802:231-40, 2014. Pubmed reference: 24443030. DOI: 10.1007/978-94-007-7893-1_14.|
|1999||Tajima, M., Miyake, S., Takehana, K., Kobayashi, A., Yamato, O., Maede, Y. :|
|Gene defect of dermatan sulfate proteoglycan of cattle affected with a variant form of Ehlers-Danlos syndrome Journal of Veterinary Internal Medicine 13:202-205, 1999. Pubmed reference: 10357109.|
- Created by Frank Nicholas on 15 Sep 2012
- Changed by Frank Nicholas on 15 Sep 2012
- Changed by Frank Nicholas on 28 Sep 2015
- Changed by Tosso Leeb on 29 May 2018