OMIA 001593-9913 : Scurs, type 2 in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TWIST1||twist family bHLH transcription factor 1||Bos taurus||4||NC_037331.1 (27819874..27817880)||TWIST1||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.
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|
|594||Charolais||Scurs, type 2||TWIST1||duplication||Naturally occurring variant||ARS-UCD1.2||4||g.27819577_27819586dup||c.148_157dup||p.(A56Rfs*87)||c.DNA position based on NM_001191145.1||2011||21814570||Some 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.
|2022||Grohs, C., Boussaha, M., Hozé, C., Capitan, A. :|
|Rare cases of hernia of the linea alba among TWIST1 haploinsufficient Charolais cattle. Anim Genet :, 2022. Pubmed reference: 35187669. DOI: 10.1111/age.13179.|
|2021||He, X.H., Jiang, L., Pu, Y.B., Zhao, Q.J., Ma, Y.H. :|
|Progress on genetic mapping and genetic mechanism of cattle and sheep horns. Yi Chuan 43:40-51, 2021. Pubmed reference: 33509773. DOI: 10.16288/j.yczz.20-229.|
|2011||Capitan, A., Grohs, C., Weiss, B., Rossignol, M.N., Reversé, P., Eggen, A. :|
|A newly described bovine type 2 scurs syndrome segregates with a frame-shift mutation in TWIST1. PLoS One 6:e22242, 2011. Pubmed reference: 21814570. DOI: 10.1371/journal.pone.0022242.|
- Created by Frank Nicholas on 31 Jul 2011
- Changed by Frank Nicholas on 07 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 14 Jun 2013
- Changed by Frank Nicholas on 18 Jun 2013
- Changed by Frank Nicholas on 01 Oct 2015