UniProtKB/Swiss-Prot O75752: Variant p.Glu266Ala

UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1
Gene: B3GALNT1
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Variant information Variant position:

266 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 Glutamate (E) to Alanine (A) at position 266 (E266A, p.Glu266Ala). 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 (E) to small size and hydrophobic (A) 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 variation in B3GALNT1 is responsible for the blood group P1PK system [MIM:111400]. Different combinations or absence of the P1PK antigens define 5 different phenotypes: P1, P2, P1(k), P2(k), and P. The P1(k) and P2(k) phenotypes are rare and characterized by lack of the P antigen.B3GALNT1 activity is responsible for the globoside blood group system (GLOB), which is defined by the P antigen [MIM:615021]. - Additional information on the polymorphism described.
Variant description:

In P2(k) phenotype. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs28937582 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

SRDLVPRIYEMMGHVKPIKF E DVYVGICLNLLKVNIHIPED 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                         SRDLVPRIYEMMGHVKPIKFEDVYVGICLNLLKVNIHIPED

Mouse                         SGDLVPRVYEMMSHVKPIKFEDVYVGICLNLLKVDIHIPED

Rat                           SGDLVPKIYEMMGHVKPIKFEDVYVGICLNLLKVDIHIPED

Pig                           SRDLVPRIYEMMSHVKPIKFEDVYVGICLNLLKVDIHIPED

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 – 331	UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1
Topological domain	44 – 331	Lumenal

Literature citations
Molecular basis of the globoside-deficient P(k) blood group phenotype. Identification of four inactivating mutations in the UDP-N-acetylgalactosamine: globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase gene.
Hellberg A.; Poole J.; Olsson M.L.;
J. Biol. Chem. 277:29455-29459(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ALA-266 AND ARG-271; POLYMORPHISM;

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.