UniProtKB/Swiss-Prot Q9NYV7: Variant p.Asn172Lys

Taste receptor type 2 member 16
Gene: TAS2R16
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Variant information Variant position:

172 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 Asparagine (N) to Lysine (K) at position 172 (N172K, p.Asn172Lys). 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 medium size and polar (N) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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:

Genetic variation in TAS2R16 influences sensitivity to beta-glucopyranoside tasting (BGLPT) [MIM:617956]. Variant Asn-172 results in greater receptor activation in response to bitter beta-glucopyranoside compounds including salicin, arbutin and amygdalin compared to Lys-172 (PubMed:16051168). Variant Lys-172 may influence risk of alcohol dependence (PubMed:16385453). Additional information on the polymorphism described.
Variant description:

Probable risk factor for alcoholism. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs846664 [ dbSNP | Ensembl ]

Sequence information Variant position:

172 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

291 The length of the canonical sequence.
Location on the sequence:

IQLLTMEHLPRNSTVTDKLE N FHQYQFQAHTVALVIPFILF 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                         IQLLTMEHLPRNSTVTDKLENFHQYQFQA-HTVALVIPFILF

Gorilla                       IQLLTMEHLPRNSTVTDKLEKFHQYEFQA-HTVALVIPFIL

Chimpanzee                    IQLLTMEHLPRNSTVTDKLEKFHQYQFQA-HTVALVIPFIL

Mouse                         MELVTLDNLPKNNSLILRLQQFEWYFSNPLKMIGFGIPFFV

Rat                           MELLTLDHLPKNSSLILRLQMFEWYFSNPFKMIGFGVPFLV

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 – 291	Taste receptor type 2 member 16
Topological domain	147 – 182	Extracellular
Glycosylation	163 – 163	N-linked (GlcNAc...) asparagine

Literature citations
Positive selection on a high-sensitivity allele of the human bitter-taste receptor TAS2R16.
Soranzo N.; Bufe B.; Sabeti P.C.; Wilson J.F.; Weale M.E.; Marguerie R.; Meyerhof W.; Goldstein D.B.;
Curr. Biol. 15:1257-1265(2005)
Cited for: POLYMORPHISM; INVOLVEMENT IN BETA-GLUCOPYRANOSIDE TASTING; VARIANTS MET-101; VAL-114; PRO-116; SER-161; LYS-172; PRO-177; ASP-216; VAL-221; HIS-222; MET-235 AND VAL-240; Functional variant in a bitter-taste receptor (hTAS2R16) influences risk of alcohol dependence.
Hinrichs A.L.; Wang J.C.; Bufe B.; Kwon J.M.; Budde J.; Allen R.; Bertelsen S.; Evans W.; Dick D.; Rice J.; Foroud T.; Nurnberger J.; Tischfield J.A.; Kuperman S.; Crowe R.; Hesselbrock V.; Schuckit M.; Almasy L.; Porjesz B.; Edenberg H.J.; Begleiter H.; Meyerhof W.; Bierut L.J.; Goate A.M.;
Am. J. Hum. Genet. 78:103-111(2006)
Cited for: VARIANT LYS-172; ASSOCIATION WITH SUSCEPTIBILITY TO ALCOHOLISM;

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.