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UniProtKB/Swiss-Prot P16442: Variant p.Met214Arg

Histo-blood group ABO system transferase
Gene: ABO
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Variant information Variant position: help 214
Type of variant: help LB/B
Residue change: help From Methionine (M) to Arginine (R) at position 214 (M214R, p.Met214Arg).
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).
Variant description: help In allele Bel01; loss of manganese binding and reduced catalytic activity.


Sequence information Variant position: help 214
Protein sequence length: help 354
Location on the sequence: help DFCERRFLSEVDYLVCVDVD M EFRDHVGVEILTPLFGTLHP
Residue conservation: help
Human                         DFCERRFLSEVDYLVCVDVDMEFRDHVGVEILTPLFGTLHP

Mouse                         HFSERRFLREVDYLVCADADMKFSDHVGVEILSTFFGTLHP

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
Binding site 211 – 211
Binding site 213 – 213
Binding site 233 – 233
Mutagenesis 214 – 214 M -> TV. Alters substrate specificity so that both UDP-N-acetyl-D-galactosamine and UDP-galactose are utilized.
Mutagenesis 234 – 234 P -> S. Altered substrate specificity in group B transferase.
Beta strand 212 – 216



Literature citations
Molecular genetic analysis of variant phenotypes of the ABO blood group system.
Ogasawara K.; Yabe R.; Uchikawa M.; Saitou N.; Bannai M.; Nakata K.; Takenaka M.; Fujisawa K.; Ishikawa Y.; Juji T.; Tokunaga K.;
Blood 88:2732-2737(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 81-354; POLYMORPHISM; VARIANTS LEU-156; GLY-176; ARG-214; ILE-216; ASP-223; SER-235; MET-266; ALA-268; MET-277; ASN-291; GLY-352 AND TRP-352; Structural effects of naturally occurring human blood group B galactosyltransferase mutations adjacent to the DXD motif.
Persson M.; Letts J.A.; Hosseini-Maaf B.; Borisova S.N.; Palcic M.M.; Evans S.V.; Olsson M.L.;
J. Biol. Chem. 282:9564-9570(2007)
Cited for: X-RAY CRYSTALLOGRAPHY (1.67 ANGSTROMS) OF 64-354 OF MUTANTS ARG-214 AND THR-214; COFACTOR; CHARACTERIZATION OF VARIANT ARG-214; MUTAGENESIS OF MET-214; CATALYTIC ACTIVITY;
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.