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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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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
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
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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