UniProtKB/Swiss-Prot Q8NGI2: Variant p.Thr106Ile

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 106 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 Threonine (T) to Isoleucine (I) at position 106 (T106I, p.Thr106Ile). 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 (T) to medium size and hydrophobic (I) 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: A stop codon at position Arg-172 in the gene coding for this protein is responsible for functional diversity thus producing a pseudogene. The stop codon is more frequent in non-Africans than in African-Americans. Additional information on the polymorphism described.
Other resources: Links to websites of interest for the variant.

• Variant rs7936512 [ dbSNP | Ensembl ]

Sequence information

Variant position: 106 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 321 The length of the canonical sequence.
Location on the sequence: IFWFHLKDIGFDECLVQMFF T HTFTGMESGVLMLMALDRYV 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 – 321	Olfactory receptor 52N4
Transmembrane	102 – 122	Helical; Name=3
Disulfide bond	99 – 191

Literature citations

Genome-wide discovery and analysis of human seven transmembrane helix receptor genes.
Suwa M.; Sato T.; Okouchi I.; Arita M.; Futami K.; Matsumoto S.; Tsutsumi S.; Aburatani H.; Asai K.; Akiyama Y.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-106; ARG-167; GLY-209 AND ILE-218; Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANTS ILE-106; ARG-167 AND ILE-218; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS ILE-106; ARG-167 AND ILE-218; The human olfactory receptor gene family.
Malnic B.; Godfrey P.A.; Buck L.B.;
Proc. Natl. Acad. Sci. U.S.A. 101:2584-2589(2004)
Cited for: IDENTIFICATION; VARIANTS ILE-106; ARG-167; GLY-209 AND ILE-218;