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UniProtKB/Swiss-Prot P16442: Variant p.Met288Arg

Histo-blood group ABO system transferase
Gene: ABO
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Variant information Variant position: help 288
Type of variant: help LB/B
Residue change: help From Methionine (M) to Arginine (R) at position 288 (M288R, p.Met288Arg).
Physico-chemical properties: help Change from medium size and hydrophobic (M) to large size and basic (R)
BLOSUM score: help -1
Polymorphism: help Genetic variations in ABO define the ABO blood group system [MIM:616093]. The ABO blood group system is one of the most important blood group systems in transfusion medicine. The ABO blood group involves 3 carbohydrate antigens: A, B, and H. A, B, and AB individuals express a glycosyltransferase activity that converts the H antigen to the A antigen (by addition of UDP-GalNAc) or to the B antigen (by addition of UDP-Gal). There are only 4 amino acid differences between A and B transferases in the catalytic domain, two of which (Leu266Met and Gly268Ala) are primarily responsible for the substrate specificity. The group O phenotype results from variations in ABO that cause a loss of glycosyltransferase activity. The most common group O allele results from a single nucleotide deletion near the 5' end of the gene (NM_020469.2:c.261del) that causes a frameshift and early termination with no active enzyme production (p.Thr88Profs*31).


Sequence information Variant position: help 288
Protein sequence length: help 354
Location on the sequence: help GFFGGSVQEVQRLTRACHQA M MVDQANGIEAVWHDESHLNK
Residue conservation: help
Human                         GFFGGSVQEVQRLTRACHQAMMVDQANGIEAVWHDESHLNK

Mouse                         AFFGGSVLEVYHLTKACHEAMMEDKANGIEPVWHDESYLNK

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 354 Histo-blood group ABO system transferase
Chain 54 – 354 Fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase soluble form
Topological domain 54 – 354 Lumenal
Active site 303 – 303 Nucleophile
Binding site 303 – 303
Mutagenesis 303 – 303 E -> A. Almost complete loss of specific activity in group B transferase.
Helix 274 – 293



Literature citations
The nature of diversity and diversification at the ABO locus.
Seltsam A.; Hallensleben M.; Kollmann A.; Blasczyk R.;
Blood 102:3035-3042(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 11-354; POLYMORPHISM; VARIANTS SER-74; LEU-156; MET-163; GLY-176; TRP-198; SER-235; MET-266; ALA-268; ARG-268; ARG-288 AND MET-346;
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.