OMIA 001982-9796 : Ehlers-Danlos Syndrome, type VI (WBFFS) in Equus caballus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PLOD1||procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1||Equus caballus||2||NC_009145.3 (39953350..39926928)||PLOD1||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|
|Warmblood||Ehlers-Danlos Syndrome, type VI||PLOD1||missense||EquCab2||2||g.39711930G>A||c.2032G>A||p.G678R||2015||25637337||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
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.
|2015||Monthoux, C., de Brot, S., Jackson, M., Bleul, U., Walter, J. :|
|Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome. BMC Vet Res 11:12, 2015. Pubmed reference: 25637337. DOI: 10.1186/s12917-015-0318-8.|
|2011||Winand, N. :|
|Identification of the causative mutation for inherited connective tissue disorders in equines. “United States Department Of Commerce Application Number: 61/486,464; (Filing Date: May 16th, 2011).” http://patentscope.wipo.int/search/en/detail.jsf?docId=WO2012158711&recNum=1&maxRec=1&office=&prevFilter=&sortOption=Pub+Date+Desc&queryString=FP%3A%28WO2012158711%29&tab=PCT+Biblio :, 2011.|
- Created by Frank Nicholas on 19 Jan 2016