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, Sphynx. 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_058382.1 (20064299..20093712)||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.
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|
|142||Cystinuria, type B||SLC7A9||missense||Naturally occurring variant||Felis_catus_9.0||E2||g.20218196G>A||c.706G>A||p.(D236N)||2016||27404572||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. Thank you to Heidi Anderson for feedback on a previous incorrect breed association for this variant.|
|143||Maine Coon Siamese Sphynx||Cystinuria, type B||SLC7A9||missense||Naturally occurring variant||Felis_catus_9.0||E2||g.20219555T>A||c.881T>A||p.(V294E)||2016||27404572||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. Thank you to Heidi Anderson for feedback on a previous incorrect breed association for this variant.|
|144||Cystinuria, type B||SLC7A9||missense||Naturally occurring variant||Felis_catus_9.0||E2||g.20228722C>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.
|2021||Kovaříková, S., Maršálek, P., Vrbová, K. :|
|Cystinuria in Dogs and Cats: What Do We Know after Almost 200 Years? Animals (Basel) 11:, 2021. Pubmed reference: 34438894. DOI: 10.3390/ani11082437.|
|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
- Changed by Imke Tammen2 on 31 Mar 2022