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 12595690.

Familial 5

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.)

Inheritance pattern


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)


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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%).


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


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




Deleted in this revision:









Other external references

  • rs713598
  • Score: 0 (benign)

Other in silico analyses

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

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Gene search

"GENE" or "GENE A123C":

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