OMIA 002213-9447 : Bitter taste, TAS2R16-related in Lemur catta

Possibly relevant human trait(s) and/or gene(s) (MIM number): 604867

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"

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TAS2R16 Lemur catta - no genomic information (-..-) TAS2R16 Ensembl

Variants

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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
Bitter taste TAS2R16 missense p.Ser282Leu 2019 31161904

Reference


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.

Edit History


  • Created by Frank Nicholas on 24 Sep 2019
  • Changed by Frank Nicholas on 24 Sep 2019