TAS2R38 A49P - GET-Evidence

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TAS2R38 A49P

(TAS2R38 Ala49Pro)


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Short summary

This variant is strongly associated with causing the “taster” phenotype of phenylthiocarbamine (PTC) in a dominant manner.

Variant evidence
Computational 1

Gene is associated with the phenotype, but Polyphen predicts benign effect.

Functional -
Case/Control 5

Highly significant p-values

See Kim UK et al. 2003 (12595690).

Familial 5

Classic Mendelian trait.

 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Low clinical importance, benign

(The "low clinical importance, " qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

Schuster et al note: Further analysis of 12 Bushmen made possible by
inclusion of the Ala262Val and Isl296Val variants on the Illumina 1M SNP array identified all of
them as PAV for the bitter taste sense contributing alleles. The apparent fixation of these alleles
is suggestive of strong selection for acute taste discrimination in a hunter-gatherer, perhaps to
avoid toxic plants, but that selection has been relaxed in other populations.

Allele frequency

  • G @ chr7:141673345: 43.1% (4638/10758) in EVS
  • G @ chr7:141319813: 45.8% (55/120) in GET-Evidence
  • Frequency shown in summary reports: 43.1% (4638/10758)

Publications
 

Kim UK, Jorgenson E, Coon H, Leppert M, Risch N, Drayna D. Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthiocarbamide. Science. 2003 Feb 21;299(5610):1221-5. PubMed PMID: 12595690.

They studied the effect of three nonsynonymous variants in this gene on PTC taste sensitivity. The “taster” haplotype for positions 49, 262, and 296 is “PAV”, the “nontaster” haplotype is “AVI” — thus, this variant is associated with the PTC taster group. Individuals carrying at least one copy of “PAV” were overwhelmingly likely to be “taster” (98%).

Timpson NJ, Christensen M, Lawlor DA, Gaunt TR, Day IN, Ebrahim S, Davey Smith G. TAS2R38 (phenylthiocarbamide) haplotypes, coronary heart disease traits, and eating behavior in the British Women's Heart and Health Study. Am J Clin Nutr. 2005 May;81(5):1005-11. PubMed PMID: 15883422.

 

Reed DR, Zhu G, Breslin PA, Duke FF, Henders AK, Campbell MJ, Montgomery GW, Medland SE, Martin NG, Wright MJ. The perception of quinine taste intensity is associated with common genetic variants in a bitter receptor cluster on chromosome 12. Hum Mol Genet. 2010 Nov 1;19(21):4278-85. Epub 2010 Jul 30. PubMed PMID: 20675712; PubMed Central PMCID: PMC2951861.

 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr7:141673345

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom G @ chr7:141673345

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom G @ chr7:141673345

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr7:141673345

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het G @ chr7:141673345

 

Added in this revision:

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het G @ chr7:141673345

 

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom G @ chr7:141673345

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr7:141673345

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom G @ chr7:141673345

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom G @ chr7:141673345

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr7:141673345

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr7:141673345

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het G @ chr7:141673345

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom G @ chr7:141673345

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr7:141319814

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr7:141319814

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr7:141319814

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr7:141319814

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr7:141319814

 

GS18504 - var-GS18504-1100-36-ASM
hom G @ chr7:141319814

 

GS18505 - var-GS18505-1100-36-ASM
het G @ chr7:141319814

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr7:141319814

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr7:141319814

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr7:141319814

 

GS18555 - var-GS18555-1100-36-ASM
hom G @ chr7:141319814

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr7:141319814

 

GS18947 - var-GS18947-1100-36-ASM
hom G @ chr7:141319814

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr7:141319814

 

GS19025 - var-GS19025-1100-36-ASM
het G @ chr7:141319814

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr7:141319814

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr7:141319814

 

GS19239 - var-GS19239-1100-36-ASM
hom G @ chr7:141319814

 

GS19240 - var-GS19240-1100-36-ASM
hom G @ chr7:141319814

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr7:141319814

 

GS19670 - var-GS19670-1100-36-ASM
hom G @ chr7:141319814

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr7:141319814

 

GS19701 - var-GS19701-1100-36-ASM
hom G @ chr7:141319814

 

GS19703 - var-GS19703-1100-36-ASM
hom G @ chr7:141319814

 

GS19704 - var-GS19704-1100-36-ASM
hom G @ chr7:141319814

 

GS19735 - var-GS19735-1100-36-ASM
hom G @ chr7:141319814

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr7:141319814

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr7:141319814

 

Other external references
 

    dbSNP
  • rs713598
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

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