OMIA 002088-9615 : Palmoplantar keratoderma, nonepidermolytic, focal 1 in Canis lupus familiaris |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
KRT16 | keratin, type I cytoskeletal 16 | Canis lupus familiaris | 9 | NC_051813.1 (21888353..21891277) | KRT16 | 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.
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
936 | Dogue de Bordeaux | Palmoplantar keratoderma, nonepidermolytic, focal 1 | KRT16 | delins, small (<=20) | Naturally occurring variant | CanFam3.1 | 9 | g.[21170012_21170013delinsCGGA;21170030del] | c.[1147_1148delinsCGGA;1165del] | p.(V383Rfs) | XM_548101.4; XP_548101.2; published as p.(E392*) - protein coordinates updated to HGVS nomenclature | 2015 | 25521457 |
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.
2015 | Plassais, J., Guaguère, E., Lagoutte, L., Guillory, A.S., de Citres, C.D., Degorce-Rubiales, F., Delverdier, M., Vaysse, A., Quignon, P., Bleuart, C., Hitte, C., Fautrel, A., Kaerle, C., Bellaud, P., Bensignor, E., Queney, G., Bourrat, E., Thomas, A., André, C. : | |
A spontaneous KRT16 mutation in a dog breed: a model for human focal non-epidermolytic palmoplantar keratoderma (FNEPPK). Journal of Investigative Dermatology 135:1187-1190, 2015. Pubmed reference: 25521457. DOI: 10.1038/jid.2014.526. | ||
1992 | Paradis, M. : | |
Footpad hyperkeratosis in a family of Dogues de Bordeaux. Veterinary Dermatology 3:75-78, 1992. DOI: 10.1111/j.1365-3164.1992.tb00148.x. |
Edit History
- Created by Frank Nicholas on 03 Jan 2017
- Changed by Frank Nicholas on 03 Jan 2017