UniProtKB/Swiss-Prot Q10981: Variant p.Ile140Phe

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 140 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 Isoleucine (I) to Phenylalanine (F) at position 140 (I140F, p.Ile140Phe). 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 (I) to large size and aromatic (F) 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: Three alleles have been identified in the Japanese population: Se1, Se2, and Sej.Common polymorphisms in FUT2 define the vitamin B12 plasma level quantitative trait locus 1 (B12QTL1) [MIM:612542]. Vitamin B12 found in meat and milk products is necessary for the formation of red blood cells, DNA synthesis during cell division, and maintenance of the myelin nerve sheath, among other functions. Deficiency in vitamin B12, clinically associated with pernicious anemia, cardiovascular disease, cancer, and neurodegenerative disorders, is often related to poor intestinal B12 absorption rather than direct dietary deficiency. - Genetic variation in FUT2 results in the non-secretor phenotype which gives rise to non-functional FUT2, resulting in a lack of the H type-1 oligosaccharide ligand in secretions, and this prevents Norwalk virus binding contributing to resistance to Norwalk virus infection. - Additional information on the polymorphism described.
Variant description: In allele Sej; non-secretor phenotype. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs1047781 [ dbSNP | Ensembl ]

Sequence information

Variant position: 140 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 343 The length of the canonical sequence.
Location on the sequence: SRIPWQNYHLNDWMEEEYRH I PGEYVRFTGYPCSWTFYHHL 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 – 343	Galactoside alpha-(1,2)-fucosyltransferase 2
Topological domain	29 – 343	Lumenal

Literature citations

Structure and expression of the gene encoding secretor-type galactoside 2-alpha-L-fucosyltransferase (FUT2).
Koda Y.; Soejima M.; Wang B.; Kimura H.;
Eur. J. Biochem. 246:750-755(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT PHE-140; 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]; VARIANT PHE-140; Molecular genetic analysis of the human Lewis histo-blood group system. II. Secretor gene inactivation by a novel single missense mutation A385T in Japanese nonsecretor individuals.
Kudo T.; Iwasaki H.; Nishihara S.; Shinya N.; Ando T.; Narimatsu I.; Narimatsu H.;
J. Biol. Chem. 271:9830-9837(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 12-343; VARIANT PHE-140;