OMIA 000256-9685 : Cystinuria, type I - A in Felis catus |
In other species:
dog
Possibly relevant human trait(s) and/or gene(s) (MIM number):
220100
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2014
Cross-species summary:
The name of this entry has been changed from type A to follow the new expanded classification system for cystinuria suggested by Brons et al. (2013): "type I cystinuria when the disease shows autosomal recessive inheritance, type II when it shows autosomal dominant inheritance, and type III for sex-limited inheritance. . . . Involvement of the SLC3A1 gene is indicated by adding A, and similarly B indicates mutations in SLC7A9".
Molecular basis:
Mizukami et al. (2014): a "missense mutation (c.1342C>T) ... [resulting] in a deleterious amino acid substitution (p.Arg448Trp) of a highly conserved arginine residue in the rBAT protein encoded by the SLC3A1 gene".
Breed:
Domestic shorthair.
Associated gene:
| 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_018725.3 (66509073..66546117) | SLC3A1 | Homologene, Ensembl, NCBI gene |
Variants
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| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Domestic shorthair | Cystinuria, type I - A | SLC3A1 | missense | Felis_catus_6.2 | A3 | g.66470414C>T | c.1342C>T | p.R448W | 2015 | 25417848 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool |
Reference
| 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. |
Edit History
- Created by Frank Nicholas on 04 Aug 2016
- Changed by Frank Nicholas on 04 Aug 2016