OMIA 001692-9615 : Ataxia, cerebellar, progressive early-onset, SEL1L-related in Canis lupus familiaris |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
SEL1L | sel-1 suppressor of lin-12-like (C. elegans) | Canis lupus familiaris | 8 | NC_051812.1 (54055128..53998407) | SEL1L | 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.
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Finnish Hound | Ataxia, cerebellar, progressive early-onset | SEL1L | missense | CanFam3.1 | 8 | g.53778458T>C | c.1972T>C | p.S658P | 2012 | 22719266 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool |
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.
2012 | Kyöstilä, K., Cizinauskas, S., Seppälä, E.H., Suhonen, E., Jeserevics, J., Sukura, A., Syrjä, P., Lohi, H. : | |
A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum-Associated Protein Degradation (ERAD) Machinery. PLoS Genet 8:e1002759, 2012. Pubmed reference: 22719266. DOI: 10.1371/journal.pgen.1002759. | ||
1971 | Tonttila, P., Lindberg, L.A. : | |
[Cerebellar ataxia in a Finnish hurrier] Ett fall av cerebellar ataxi hos finsk stövare (Swedish) Suomen Eläinlääkärilehti 77:135–138, 1971. |
Edit History
- Created by Frank Nicholas on 23 Jun 2012
- Changed by Frank Nicholas on 23 Jun 2012
- Changed by Frank Nicholas on 20 May 2013
- Changed by Tosso Leeb on 19 Jan 2017
- Changed by Tosso Leeb on 02 Mar 2017
- Changed by Tosso Leeb on 07 Jul 2017