UniProtKB/Swiss-Prot P21217: Variant p.Val270Met

3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase FUT3
Gene: FUT3
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Variant information Variant position:

270 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 Methionine (M) at position 270 (V270M, p.Val270Met). 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:

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:

Genetic variations in FUT3 define the Lewis blood group system (LE) [MIM:618983]. FUT3 catalyzes the addition of fucose to precursor polysaccharides in the last step of Lewis antigen biosynthesis. Variations in this gene are responsible for the majority of Lewis antigen-negative phenotypes (Le(-)). Additional information on the polymorphism described.
Variant description:

In Le(-) individuals; Loss of alpha (1,3/1,4)fucosyltransferase activity.. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs28381968 [ dbSNP | Ensembl ]

Sequence information Variant position:

270 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

361 The length of the canonical sequence.
Location on the sequence:

SLHPDYITEKLWRNALEAWA V PVVLGPSRSNYERFLPPDAF 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.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         SLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAF

Chimpanzee                    SLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAF

Bovine                        SLHPDYITEKLWKNALQAWAVPVVLGPSRVNYEQFLPPKAF

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 – 361	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase FUT3
Topological domain	35 – 361	Lumenal

Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LE(-) ARG-20; ASN-162; SER-170; ARG-223 AND MET-270; VARIANTS SER-5; CYS-160; MET-325 AND GLN-327; VARIANTS TRP-68 AND THR-105; Significance of each of three missense mutations, G484A, G667A, and G808A, present in an inactive allele of the human Lewis gene (FUT3) for alpha(1,3/1,4)fucosyltransferase inactivation.
Pang H.; Koda Y.; Soejima M.; Kimura H.;
Glycoconj. J. 15:961-967(1998)
Cited for: VARIANTS LE(-) ASN-162; ARG-223 AND MET-270; CHARACTERIZATION OF VARIANTS LE(-) ASN-162; ARG-223 AND MET-270; Five novel missense mutations of the Lewis gene 'FUT3' in African 'Xhosa' and Caucasian populations in South Africa.
Pang H.; Liu Y.; Koda Y.; Soejima M.; Jia J.; Schlaphoff T.; du Toit E.D.; Kimura H.;
Hum. Genet. 102:675-680(1998)
Cited for: VARIANTS LE(+) LYS-102 AND ALA-124; VARIANTS LE(-) ASN-162; ARG-223 AND MET-270;

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.