UniProtKB/Swiss-Prot P19526: Variant p.Ala12Val

Galactoside alpha-(1,2)-fucosyltransferase 1
Gene: FUT1
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Variant information Variant position:

12 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 Alanine (A) to Valine (V) at position 12 (A12V, p.Ala12Val). 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 small size and hydrophobic (A) to medium size and hydrophobic (V) 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:

Genetic variations in FUT1 define the H blood group and are responsible for the Bombay and para-Bombay phenotypes [MIM:616754]. Erythrocytes from individuals with the Bombay and para-Bombay blood group phenotypes are deficient in H antigens. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs2071699 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MWLRSHRQLCL A FLLVCVLSVIFFLHIHQDSF 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                         MWLRSHRQLCLAFLLVCVLSVI-FFLHIH-QDSF

Gorilla                       MWPPSHRQLCRAFLLVCVFSVISFFLHIH-QD

Chimpanzee                    MWPPSHRQLCLAFLLVCVLSVISFFLHIH-QD

Mouse                         MWTPSRRQLCLAFLLVCVLSAGSFFFHLNGGN

Rat                           MWTPSRKQLCLAFLSVCVLSAGSFFFHLNGGN

Pig                           MWVPSRRHLCLTFLLVCVLAAI-FFLNVY-QD

Bovine                        MWAPGHHHLCLIFLLTCVFACV-FFLLIH-QN

Rabbit                        MWPPSRRQLCLAFLLVCALSAFSFLLHLH-QD

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 – 365	Galactoside alpha-(1,2)-fucosyltransferase 1
Transmembrane	9 – 25	Helical; Signal-anchor for type II membrane protein

Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT VAL-12;

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.