OMIA 002322-9615 : Dyskinesia, paroxysmal, SOD1-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SOD1||superoxide dismutase 1, soluble||Canis lupus familiaris||31||NC_051835.1 (26654922..26662986)||SOD1||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.
|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|
|paroxysmal dyskinesia, juvenile||SOD1||delins, small (<=20)||CanFam3.1||31||c.12delinsCAC||p.(Lys4Aspfs*6)||Mandigers et al. (2021): A G-nucleotide of the fourth codon of the gene is replaced by a CAC-trinucleotide. The shifted coding sequence runs into a stop codon at the tenth codon. The annotation of the indel mutation is NM001003035.1:c.12delinsCAC. The protein annotation is NP_001003035.1:p.Lys4Aspfs*6. The genomic annotation cannot be given because exon 1 of SOD1 is not represented in the reference genome CanFam3.1."||2021||33677640|
|2021||Mandigers, P.J.J., Van Steenbeek, F.G., Bergmann, W., Vos-Loohuis, M., Leegwater, P.A. :|
|A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy. Hum Genet :, 2021. Pubmed reference: 33677640. DOI: 10.1007/s00439-021-02271-6.|
- Created by Imke Tammen2 on 08 Apr 2021
- Changed by Imke Tammen2 on 08 Apr 2021