TAS2R38 A49P

(TAS2R38 Ala49Pro)

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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.
		Classic Mendelian trait.

Clinical importance
Severity	-

Treatability	-

Penetrance	-

Low clinical importance, benign

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

unknown

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

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

Deleted in this revision:

Other external references

dbSNP

rs713598
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the TAS2R38 gene
Hirschsprung Disease
Multiple Endocrine Neoplasia Type 2
RET-Related Hirschsprung Disease
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TAS2R38

OMIM

Phenylthiocarbamide tasting
www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607751

PolyPhen-2

Score: 0 (benign)

Other in silico analyses

NBLOSUM100 score = 2
GET-Evidence autoscore = 4

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_H05 from PGP sample 10971581 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_C07 from PGP sample 74521372 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_F02 from PGP sample 40767107 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_D02 from PGP sample 27316983 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_H01 from PGP sample 94797469 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B05 from PGP sample 83494370 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B01 from PGP sample 86206034 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_H06 from PGP sample 91708424 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F06 from PGP sample 64191565 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_D06 from PGP sample 69488604 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_B07 from PGP sample 61499538 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_B02 from PGP sample 94378523 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_A07 from PGP sample 96240009 view
Oct 7 2012 Miron Peshkin edited article 15883422 summary view
Oct 7 2012 Miron Peshkin edited article 15883422 summary view
Oct 7 2012 Miron Peshkin edited article 20675712 summary view
May 3 2012 Miron Peshkin edited article 15883422 summary view
May 3 2012 Miron Peshkin edited article 15883422 summary view
May 3 2012 Miron Peshkin added article 15883422 view
May 3 2012 Miron Peshkin added article 20675712 view
May 3 2012 Miron Peshkin edited variant summary view
May 3 2012 Miron Peshkin edited article 12595690 summary view
Mar 5 2012 Genome Importing Robot added CGI sample GS000006909 view
Mar 5 2012 Genome Importing Robot added CGI sample GS000005532 view
Mar 5 2012 Genome Importing Robot added hu232307 build 36 substitution variants view
Jun 23 2011 Genome Importing Robot removed [NA18555] view
Jun 23 2011 Genome Importing Robot removed [NA18507] view
Jun 23 2011 Genome Importing Robot removed [NA12878] view
Jun 23 2011 Genome Importing Robot removed [NA12156] view
Jun 23 2011 Genome Importing Robot removed James D. Watson view
Jun 23 2011 Genome Importing Robot removed [NA07022] view
Jun 22 2011 Genome Importing Robot removed [NA19240] view
Jun 22 2011 Genome Importing Robot removed D#kgao view
Jun 22 2011 Genome Importing Robot removed G/aq'o view
Jun 22 2011 Genome Importing Robot removed [snp-3] view
Jun 22 2011 Genome Importing Robot removed !Gubi view
Jun 22 2011 Genome Importing Robot removed !Ai view
Jun 22 2011 Genome Importing Robot removed [snp-2] view
Jun 22 2011 Genome Importing Robot removed Seong-Jin Kim view
Mar 29 2011 Genome Importing Robot added var-GS21767-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS20502-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19735-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19704-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19703-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19701-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19700-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19670-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19669-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19240-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19239-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19238-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19026-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19025-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19020-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18947-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18558-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18555-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18537-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18526-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18508-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS06985-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS10851-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS07357-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS12004-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18502-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18504-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18505-1100-36-ASM view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Jr. view
Dec 6 2010 Genome Importing Robot added hu3215A7 build 36 substitution variants view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_F01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_E01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_B01_200_37 view
May 31 2010 Madeleine Ball edited variant summary view
May 31 2010 Madeleine Ball edited variant summary view
May 31 2010 Madeleine Ball edited article 12595690 summary view
May 31 2010 Madeleine Ball edited variant summary view
May 31 2010 Madeleine Ball added article 12595690 view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_H01_200_37 view
May 12 2010 Genome Importing Robot added Henry Louis Gates Jr. view
Mar 12 2010 Alexander Wait Zaranek edited variant summary view
Feb 27 2010 Genome Importing Robot added !Gubi view
Feb 27 2010 Genome Importing Robot added G/aq'o view
Feb 27 2010 Genome Importing Robot added D#kgao view
Feb 27 2010 Genome Importing Robot added !Ai view
Feb 26 2010 Genome Importing Robot added CGI sample GS00253-DNA_D01_200_37 view
Feb 26 2010 Genome Importing Robot added [NA12156] view
Jan 12 2010 Alexander Wait Zaranek edited variant summary view
Jan 12 2010 Alexander Wait Zaranek edited variant summary view
Jan 5 2010 OMIM Importing Robot edited variant summary view
Dec 27 2009 Genome Importing Robot added [NA07022] view
Dec 27 2009 Genome Importing Robot added [NA18507] view
Dec 27 2009 Genome Importing Robot added [snp-3] view
Dec 27 2009 Genome Importing Robot added [NA19240] view
Dec 27 2009 Genome Importing Robot added [NA18555] view
Dec 27 2009 Genome Importing Robot added [NA12878] view
Dec 27 2009 Genome Importing Robot added [snp-2] view
Dec 27 2009 Genome Importing Robot added James D. Watson view
Dec 27 2009 Genome Importing Robot added Seong-Jin Kim view
Dec 27 2009 Genome Importing Robot added variant view

TAS2R38 A49P - GET-Evidence