OMIA:002213-9447 : Bitter taste, TAS2R16-related in Lemur catta
Categories: Taste / olfaction phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2019
Molecular basis: Itoigawa et al. (2019) reported that a "reverse mutation from serine to leucine at position 282^7.55 occurred specifically in the ring-tailed lemur linage and recovered the agonism of arbutin"
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TAS2R16||Lemur catta||-||no genomic information (-..-)||TAS2R16||Ensembl|
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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.
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|
|1122||Bitter taste||TAS2R16||missense||Naturally occurring variant||p.(S282L)||2019||31161904|
Cite this entry
|2019||Itoigawa, A., Hayakawa, T., Suzuki-Hashido, N., Imai, H. :|
|A natural point mutation in the bitter taste receptor TAS2R16 causes inverse agonism of arbutin in lemur gustation. Proc Biol Sci 286:20190884, 2019. Pubmed reference: 31161904 . DOI: 10.1098/rspb.2019.0884.|
- Created by Frank Nicholas on 24 Sep 2019
- Changed by Frank Nicholas on 24 Sep 2019