OMIA 002023-9685 : Cystinuria, type B in Felis catus
Hilton et al. (2017) reported the p.Val294Glu variant as being likely causal in "a litter of Siamese-crossbred cats in Germany". Noting that this is the fourth breed in which this variant has been detected, Hilton et al. (2017) concluded that this variant is likely to be a widespread cause of this disorder in cats.Breeds: Domestic Longhair, Maine Coon, Siamese, Sphinx. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC7A9||solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9||Felis catus||E2||NC_018737.3 (20214089..20241798)||SLC7A9||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|
|Maine Coon Siamese Sphinx||Cystinuria, type B||SLC7A9||missense||Felis_catus_6.2||E2||g.19520350G>A||c.706G>A||p.D236N||2016||27404572||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|Maine Coon||Cystinuria, type B||SLC7A9||missense||Felis_catus_6.2||E2||g.19521709C>T||c.881T>A||p.V294E||2016||27404572||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|Cystinuria, type B||SLC7A9||missense||Felis_catus_6.2||E2||g.19530911C>T||c.1175C>T||p.T392M||2016||27404572||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.
|2017||Hilton, S., Mizukami, K., Giger, U. :|
|[Cystinuria caused by a SLC7A9 missense mutation in Siamese-crossbred littermates in Germany]. Tierarztl Prax Ausg K Kleintiere Heimtiere 45:265-272, 2017. Pubmed reference: 28585658. DOI: 10.15654/TPK-160975.|
|2016||Mizukami, K., Raj, K., Osborne, C., Giger, U. :|
|Cystinuria Associated with Different SLC7A9 Gene Variants in the Cat. PLoS One 11:e0159247, 2016. Pubmed reference: 27404572. DOI: 10.1371/journal.pone.0159247.|
- Created by Frank Nicholas on 05 Aug 2016
- Changed by Frank Nicholas on 05 Aug 2016
- Changed by Frank Nicholas on 01 Sep 2017