UniProtKB/SwissProt variant VAR

Variant information

Variant position:

49

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 Alanine (A) to Proline (P) at position 49 (A49P, p.Ala49Pro).

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:

Change from small size and hydrophobic (A) to medium size and hydrophobic (P)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-1

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.

Variant rs713598 [ dbSNP | Ensembl ]

Sequence information

Variant position:

49

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:

GFLTNAFVFLVNFWDVVKRQ A LSNSDCVLLCLSISRLFLHG

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                         GFLTNAFVFLVNFWDVVKRQALSNSDCVLLCLSISRLFLHG

Gorilla                       GFLTNAFVFLVNFWDVVKRQPLSNSDCVLLCLSISRLFLHG

Chimpanzee                    GFLTNAFVFLVNFWDVVKRQPLSNSDCVLLCLSISRLFLHG

Mouse                         GILANAFIVLVNVWDVVKKQPLNNCDIALLCLSITRLFLQG

Rat                           GIMANAFIVLVNFWDMVKKQPLNNCDIALLCLSITRLFLQG

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.

Type	Positions	Description
Chain	1 – 333	Taste receptor type 2 member 38
Topological domain	39 – 55	Cytoplasmic

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P59533: Variant p.Ala49Pro