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%).

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het 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

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
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

 

Added in this revision:

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

 

NA07022

 

NA12156

 

NA12878

 

NA18507

 

NA18555

 

NA19240

 

snp-1

 

snp-18

 

snp-2

 

snp-28

 

snp-29

 

snp-3

 

snp-30

 

snp-31

 

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
 

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