UniProtKB/Swiss-Prot O15529: Variant p.Val256Ala

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 256 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 Valine (V) to Alanine (A) at position 256 (V256A, p.Val256Ala). 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 hydrophobic (V) to small size and hydrophobic (A) 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: The sequence shown in this entry differs from the translation of the reference genome assembly (GRCh38/hg38) due to a missense variant at position 174, p.Arg174Trp, in the reference genome, that results in the loss of response to short chain fatty acids, including propionate. The sequence shown in this entry is that of variant p.Trp174Arg. This variant is activated by propionate and has a frequency of about 15% in the human population according to the Genome Aggregation Database (gnomAD v2.1.1). Additional information on the polymorphism described.
Other resources: Links to websites of interest for the variant.

• Variant rs424715 [ dbSNP | Ensembl ]

Sequence information

Variant position: 256 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 346 The length of the canonical sequence.
Location on the sequence: VCFGPYNVSHVVGYICGESP V WRIYVTLLSTLNSCVDPFVY 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.
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 – 346	G-protein coupled receptor 42
Topological domain	244 – 258	Extracellular

Literature citations

Sequence polymorphisms provide a common consensus sequence for GPR41 and GPR42.
Liaw C.W.; Connolly D.T.;
DNA Cell Biol. 28:555-560(2009)
Cited for: VARIANTS GLN-44; ARG-45; TRP-174; LEU-227; ALA-256 AND SER-346;