UniProtKB/Swiss-Prot O76001: Variant p.Val228Ile

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 228 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 Isoleucine (I) at position 228 (V228I, p.Val228Ile). 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: Variants Ala-113 and Gln-226 exhibit a reduced ability to smell C3HEX [MIM:615082]. When both variants are present in the same haplotype (allele 6M1-3*02), the response to C3HEX is abolished. African populations have a higher proportion of the C3HEX-nonresponsive haplotype than other populations. All haplotypes containing Gln-226 show low levels of surface expression. Additional information on the polymorphism described.
Variant description: In allele 6M1-3*03. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs3130764 [ dbSNP | Ensembl ]

Sequence information

Variant position: 228 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 311 The length of the canonical sequence.
Location on the sequence: IFVLIPLILILTSYGAIVRA V LRMQSTTGLQKVFGTCGAHL 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 – 311	Olfactory receptor 2J3
Topological domain	223 – 239	Cytoplasmic

Literature citations

Polymorphic olfactory receptor genes and HLA loci constitute extended haplotypes.
Ziegler A.; Ehlers A.; Forbes S.A.; Trowsdale J.; Uchanska-Ziegler B.; Volz A.; Younger R.; Beck S.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ALA-113; GLN-226; ILE-228 AND MET-261;