UniProtKB/Swiss-Prot Q96LA9: Variant p.Asn245Ser

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 245 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 Serine (S) at position 245 (N245S, p.Asn245Ser). 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 small size and polar (S) 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
Variant description: Found in persons of African ancestry; associated with increased preference for mentholated cigarettes among smokers; reduced activation by agonists. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs7102322 [ dbSNP | Ensembl ]

Sequence information

Variant position: 245 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 322 The length of the canonical sequence.
Location on the sequence: FLLCGLPFGILGALIYRMHL N LEVLYCHVYLVCMSLSSLNS 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 – 322	Mas-related G-protein coupled receptor member X4
Topological domain	239 – 249	Extracellular
Disulfide bond	23 – 251
Mutagenesis	232 – 232	F -> A. Decreased binding to 3-sulfated bile acids.
Mutagenesis	235 – 235	L -> A. Reduced affinity for deoxycholate and 3-sulfated bile acids.
Mutagenesis	240 – 240	Y -> A. Decreased binding to 3-sulfated bile acids. Decreased activation by agonists.
Mutagenesis	241 – 241	R -> A. Decreased binding to 3-sulfated bile acids.
Mutagenesis	250 – 250	Y -> A. Decreased activation by phosphate-modified drugs, such as fospropofol.
Mutagenesis	254 – 254	Y -> A. Decreased activation by phosphate-modified drugs, such as fospropofol.

Literature citations

An African-specific haplotype in MRGPRX4 is associated with menthol cigarette smoking.
Kozlitina J.; Risso D.; Lansu K.; Olsen R.H.J.; Sainz E.; Luiselli D.; Barik A.; Frigerio-Domingues C.; Pagani L.; Wooding S.; Kirchner T.; Niaura R.; Roth B.; Drayna D.;
PLoS Genet. 15:e1007916-e1007916(2019)
Cited for: FUNCTION; ACTIVITY REGULATION; VARIANT SER-245; CHARACTERIZATION OF VARIANT SER-245;