OMIA 001553-9615 : Multifocal retinopathy 2 in Canis lupus familiaris |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
BEST1 | bestrophin 1 | Canis lupus familiaris | 18 | NC_051822.1 (55534952..55522441) | BEST1 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
59 | Coton de Tulear | Multifocal retinopathy 2 | BEST1 | cmr2 | missense | Naturally occurring variant | CanFam3.1 | 18 | g.54476143C>T | c.482G>A | p.(G161D) | NM_001097545.1; NP_001091014.1 | 2007 | 17460247 | Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn. |
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.
2013 | Guziewicz, K.E., Zangerl, B., Komáromy, A.M., Iwabe, S., Chiodo, V.A., Boye, S.L., Hauswirth, W.W., Beltran, W.A., Aguirre, G.D. : | |
Recombinant AAV-Mediated BEST1 Transfer to the Retinal Pigment Epithelium: Analysis of Serotype-Dependent Retinal Effects. PLoS One 8:e75666, 2013. Pubmed reference: 24143172. DOI: 10.1371/journal.pone.0075666. | ||
2012 | Guziewicz, K.E., Aguirre, G.D., Zangerl, B. : | |
Modeling the Structural Consequences of BEST1 Missense Mutations. Adv Exp Med Biol 723:611-8, 2012. Pubmed reference: 22183385. DOI: 10.1007/978-1-4614-0631-0_78. | ||
Miyadera, K., Acland, G.M., Aguirre, G.D. : | ||
Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099. DOI: 10.1007/s00335-011-9361-3. | ||
2011 | Guziewicz, KE., Slavik, J., Lindauer, SJ., Aguirre, GD., Zangerl, B. : | |
Molecular Consequences of BEST1 Gene Mutations in Canine Multifocal Retinopathy Predict Functional Implications for Human Bestrophinopathies. Invest Ophthalmol Vis Sci 52:4497-505, 2011. Pubmed reference: 21498618. DOI: 10.1167/iovs.10-6385. | ||
2007 | Guziewicz, KE., Zangerl, B., Lindauer, SJ., Mullins, RF., Sandmeyer, LS., Grahn, BH., Stone, EM., Acland, GM., Aguirre, GD. : | |
Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. Invest Ophthalmol Vis Sci 48:1959-67, 2007. Pubmed reference: 17460247. DOI: 10.1167/iovs.06-1374. | ||
1998 | Grahn, BH., Philibert, H., Cullen, CL., Houston, DM., Semple, HA., Schmutz, SM. : | |
Multifocal retinopathy of Great Pyrenees dogs. Vet Ophthalmol 1:211-221, 1998. Pubmed reference: 11397233. |
Edit History
- Created by Frank Nicholas on 04 Mar 2011
- Changed by Vicki Meyers-Wallen on 28 Sep 2011
- Changed by Frank Nicholas on 29 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011