OMIA 002266-9615 : Hyperkeratosis, palmoplantar, DSG1-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|DSG1||desmoglein 1||Canis lupus familiaris||7||NC_051811.1 (58179775..58144506)||DSG1||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|
|Rottweiler||Hyperkeratosis, palmoplantar, DSG1-related||DSG1||deletion, small (<=20)||CanFam3.1||7||g.58163636_58163640del5||c.2541_2545delGGGCT||p.(Gly848Trpfs*2)||"It is a frameshift variant, NM_001002939.1:c.2541_2545delGGGCT, predicted to truncate 207 amino acids from the C-terminus of the wildtype DSG1 protein, NP_001002939.1:p.(Gly848Trpfs*2)" (Backel et al., 2020)||2020||32344723|
|2020||Backel, K.A., Kiener, S., Jagannathan, V., Casal, M.L., Leeb, T., Mauldin, E.A. :|
|A <i>DSG1</i> Frameshift Variant in a Rottweiler Dog with Footpad Hyperkeratosis. Genes (Basel) 11:, 2020. Pubmed reference: 32344723. DOI: 10.3390/genes11040469.|
- Created by Frank Nicholas on 14 May 2020
- Changed by Frank Nicholas on 14 May 2020