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UniProtKB/Swiss-Prot variant pages

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: help 266
Type of variant: help LB/B
Residue change: help From Glutamate (E) to Alanine (A) at position 266 (E266A, p.Glu266Ala).
Physico-chemical properties: help Change from medium size and acidic (E) to small size and hydrophobic (A)
BLOSUM score: help -1
Polymorphism: help 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]. -
Variant description: help In P2(k) phenotype.
Other resources: help


Sequence information Variant position: help 266
Protein sequence length: help 331
Location on the sequence: help SRDLVPRIYEMMGHVKPIKF E DVYVGICLNLLKVNIHIPED
Residue conservation: help
Human                         SRDLVPRIYEMMGHVKPIKFEDVYVGICLNLLKVNIHIPED

Mouse                         SGDLVPRVYEMMSHVKPIKFEDVYVGICLNLLKVDIHIPED

Rat                           SGDLVPKIYEMMGHVKPIKFEDVYVGICLNLLKVDIHIPED

Pig                           SRDLVPRIYEMMSHVKPIKFEDVYVGICLNLLKVDIHIPED

Sequence annotation in neighborhood: help
TypePositionsDescription
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.