OMIA 001716-9913 : Ehlers-Danlos syndrome, EPYC-related 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 |
Variants
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.
OMIA Variant ID | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
191 | Holstein | Ehlers-Danlos syndrome, Holstein variant | EPYC | missense | Naturally occurring variant | ARS-UCD1.2 | 5 | g.20856381C>A | 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 |
References
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.
2021 | Roberts, J.H., Halper, J. : | |
Connective tissue disorders in domestic animals. Adv Exp Med Biol 1348:325-335, 2021. Pubmed reference: 34807427. DOI: 10.1007/978-3-030-80614-9_15. | ||
Vroman, R., Malfait, A.M., Miller, R.E., Malfait, F., Syx, D. : | ||
Animal models of Ehlers-Danlos syndromes: Phenotype, pathogenesis, and translational potential. Front Genet 12:726474, 2021. Pubmed reference: 34712265. DOI: 10.3389/fgene.2021.726474. | ||
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. |
Edit History
- 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