OMIA 002084-9615 : Dyskinesia, paroxysmal, PIGN-related in Canis lupus familiaris |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
PIGN | phosphatidylinositol glycan anchor biosynthesis, class N | Canis lupus familiaris | 1 | NC_051805.1 (14544736..14652948) | PIGN | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Soft Coated Wheaten Terrier | Dyskinesia, paroxysmal, PIGN | PIGN | missense | CanFam3.1 | 1 | g.14705240C>T | c.398C>T | p.T133I | 2016 | 27891564 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool |
References
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.
2017 | Stassen, Q.E.M., Koskinen, L.L.E., van Steenbeek, F.G., Seppälä, E.H., Jokinen, T.S., Prins, P.G.M., Bok, H.G.J., Zandvliet, M.M.J.M., Vos-Loohuis, M., Leegwater, P.A.J., Lohi, H. : | |
Paroxysmal Dyskinesia in Border Terriers: Clinical, Epidemiological, and Genetic Investigations. J Vet Intern Med 31:1123-1131, 2017. Pubmed reference: 28703446. DOI: 10.1111/jvim.14731. | ||
2016 | Kolicheski, A.L., Johnson, G.S., Mhlanga-Mutangadura, T., Taylor, J.F., Schnabel, R.D., Kinoshita, T., Murakami, Y., O'Brien, D.P. : | |
A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia. Neurogenetics :, 2016. Pubmed reference: 27891564. DOI: 10.1007/s10048-016-0502-4. | ||
2004 | Shelton, G.D. : | |
Muscle pain, cramps and hypertonicity. Vet Clin North Am Small Anim Pract 34:1483-96, 2004. Pubmed reference: 15474685. DOI: 10.1016/j.cvsm.2004.05.019. |
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- Created by Frank Nicholas on 01 Dec 2016