UniProtKB/Swiss-Prot Q10981: Variant p.Asp172Asn

Galactoside 2-alpha-L-fucosyltransferase 2
Gene: FUT2
Chromosomal location: 19q13.3
Variant information

Variant position:  172
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Aspartate (D) to Asparagine (N) at position 172 (D172N, p.Asp172Asn).
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 acidic (D) to medium size and polar (N)
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:  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:  Polymorphism found in Xhosa population.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  172
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:   CSWTFYHHLRQEILQEFTLH  D HVREEAQKFLRGLQVNGSRP
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.

TypePositionsDescription
Chain 1 – 343 Galactoside 2-alpha-L-fucosyltransferase 2
Topological domain 29 – 343 Lumenal
Glycosylation 188 – 188 N-linked (GlcNAc...) asparagine


Literature citations

Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-25; CYS-138; ASN-172 AND SER-258;

Extensive polymorphism of the FUT2 gene in an African (Xhosa) population of South Africa.
Liu Y.; Koda Y.; Soejima M.; Pang H.; Schlaphoff T.; du Toit E.D.; Kimura H.;
Hum. Genet. 103:204-210(1998)
Cited for: VARIANTS VAL-25; CYS-138 AND ASN-172;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.