OMIA 000256-9685 : Cystinuria, type I - A in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC3A1||solute carrier family 3 (amino acid transporter heavy chain), member 1||Felis catus||A3||NC_058370.1 (64041123..64078170)||SLC3A1||Homologene, Ensembl, NCBI gene|
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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|
|141||Domestic Shorthair||Cystinuria, type I - A||SLC3A1||missense||Naturally occurring variant||Felis_catus_9.0||A3||g.66539609C>T||c.1342C>T||p.(R448W)||XM_003983937.5:c.1342C>T; Felis_catus_6.2: g.66470414C>T||2015||25417848||The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770)|
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.|
|Rodney, A.R., Buckley, R.M., Fulton, R.S., Fronick, C., Richmond, T., Helps, C.R., Pantke, P., Trent, D.J., Vernau, K.M., Munday, J.S., Lewin, A.C., Middleton, R., Lyons, L.A., Warren, W.C. :|
|A domestic cat whole exome sequencing resource for trait discovery. Sci Rep 11:7159, 2021. Pubmed reference: 33785770. DOI: 10.1038/s41598-021-86200-7.|
|2015||Mizukami, K., Raj, K., Giger, U. :|
|Feline cystinuria caused by a missense mutation in the SLC3A1 gene. J Vet Intern Med 29:120-5, 2015. Pubmed reference: 25417848. DOI: 10.1111/jvim.12501.|
- Created by Frank Nicholas on 04 Aug 2016
- Changed by Frank Nicholas on 04 Aug 2016