OMIA 002092-9615 : Ataxia, spinocerebellar, SPTBN2-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SPTBN2||spectrin, beta, non-erythrocytic 2||Canis lupus familiaris||18||NC_051822.1 (51662893..51701379)||SPTBN2||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.
|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|
|Beagle||Ataxia, spinocerebellar, SPTBN2-related||SPTBN2||deletion, small (<=20)||Naturally occurring variant||18||p.(G1952insRDRGQGRPLLLMHRHGAGAA)||2012||22781464|
|2012||Forman, O.P., De Risio, L., Stewart, J., Mellersh, C.S., Beltran, E. :|
|Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. BMC Genet 13:55, 2012. Pubmed reference: 22781464. DOI: 10.1186/1471-2156-13-55.|
- Created by Tosso Leeb on 19 Jan 2017
- Changed by Tosso Leeb on 02 Mar 2017
- Changed by Tosso Leeb on 07 Jul 2017
- Changed by Frank Nicholas on 15 May 2020