UniProtKB/Swiss-Prot O75752 : Variant p.Glu266Ala
UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1
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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:
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:
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:
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
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).following page
Polymorphism:
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:
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
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:
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 SRDLVPRIYEMMGHVKPIKFE DVYVGICLNLLKVNIHIPED
Mouse SGDLVPRVYEMMSHVKPIKFE DVYVGICLNLLKVDIHIPED
Rat SGDLVPKIYEMMGHVKPIKFE DVYVGICLNLLKVDIHIPED
Pig SRDLVPRIYEMMSHVKPIKFE DVYVGICLNLLKVDIHIPED
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.
