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UniProtKB/Swiss-Prot P59533: Variant p.Ile296Val

Taste receptor type 2 member 38
Gene: TAS2R38
Variant information

Variant position:  296
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Isoleucine (I) to Valine (V) at position 296 (I296V, p.Ile296Val).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Polymorphism:  Variations in TAS2R38 are associated with the ability to taste phenylthiocarbamide (PTC tasting) [MIM:171200]; also called thiourea tasting. The ability to taste the substance PTC and a number of related substances is genetically controlled. Genetic studies have demonstrated complex inheritance for this trait. For some people (and some chimpanzees also), the chemical PTC tastes very bitter. For others, it is tasteless. Actually, substantial variation in taste sensitivity exists in human. Five haplotypes arising from three coding SNPs in the TAS2R38 gene are associated with distinct phenotypes of PTC taste sensitivity.
Additional information on the polymorphism described.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  296
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  333
The length of the canonical sequence.

Location on the sequence:   KIGVMVCVGIMAACPSGHAA  I LISGNAKLRRAVMTILLWAQ
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         KIGVMVCVGIMAACPSGHAAILISGNAKLRRAVMTILLWAQ

Gorilla                       KIGVMVCVGIMAACPSGHAAVLISGNAKLRRAVTTILLWAQ

Chimpanzee                    KIGVMVCVGIMAACPSGHAAVLISGNAKLRRAVTTILLWAQ

Mouse                         KGGVMICIGMMAACPSGHAAILISGNAKLRRAIETMLFWFQ

Rat                           KGGVMVCIGMMAACPSGHAAILISGNAKLKKVIVTILFWFQ

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Chain 1 – 333 Taste receptor type 2 member 38
Transmembrane 277 – 297 Helical; Name=7


Literature citations

Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthiocarbamide.
Kim U.-K.; Jorgenson E.; Coon H.; Leppert M.; Risch N.; Drayna D.T.;
Science 299:1221-1225(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS PRO-49 AND VAL-296;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.