OMIA 002250-9615 : Succinic semialdehyde dehydrogenase deficiency in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ALDH5A1||aldehyde dehydrogenase 5 family, member A1||Canis lupus familiaris||35||NC_051839.1 (22678366..22704116)||ALDH5A1||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|
|1240||Saluki||Succinic Semialdehyde Dehydrogenase Deficiency||ALDH5A1||missense||Naturally occurring variant||CanFam3.1||35||g.22572768G>A||c.866G>A||p.(G288D)||XM_014110599.2: c.866G>A; XP_013966074.2: p.(Gly288Asp) (Vernau et al., 2020)||2020||32887425|
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.
|2020||Vernau, K.M., Struys, E., Letko, A., Woolard, K.D., Aguilar, M., Brown, E.A., Cissell, D.D., Dickinson, P.J., Shelton, G.D., Broome, M.R., Gibson, K.M., Pearl, P.L., König, F., Van Winkle, T.J., O'Brien, D., Roos, B., Matiasek, K., Jagannathan, V., Drögemüller, C., Mansour, T.A., Brown, C.T., Bannasch, D.L. :|
|A missense variant in ALDH5A1 associated with canine succinic semialdehyde dehydrogenase deficiency (SSADHD) in the Saluki dog. Genes (Basel) 11:1033, 2020. Pubmed reference: 32887425. DOI: 10.3390/genes11091033.|
|1987||Luttgen, P.J., Storts, R.W. :|
|Central nervous system status spongiosus of Saluki dogs Proceedings of the 5th Annu Meet Vet med Forum, ACVIM. 841:, 1987.|
- Created by Frank Nicholas on 06 Mar 2020
- Changed by Frank Nicholas on 08 Mar 2020
- Changed by Frank Nicholas on 14 Sep 2020