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UniProtKB/Swiss-Prot P16442: Variant p.Phe216Ile

Histo-blood group ABO system transferase
Gene: ABO
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Variant information Variant position: help 216
Type of variant: help LB/B
Residue change: help From Phenylalanine (F) to Isoleucine (I) at position 216 (F216I, p.Phe216Ile).
Physico-chemical properties: help Change from large size and aromatic (F) to medium size and hydrophobic (I)
BLOSUM score: help 0
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).
Other resources: help


Sequence information Variant position: help 216
Protein sequence length: help 354
Location on the sequence: help CERRFLSEVDYLVCVDVDME F RDHVGVEILTPLFGTLHPGF
Residue conservation: help
Human                         CERRFLSEVDYLVCVDVDMEFRDHVGVEILTPLFGTLHPGF

Mouse                         SERRFLREVDYLVCADADMKFSDHVGVEILSTFFGTLHPGF

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
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; POLYMORPHISM; VARIANTS ARG-35; PHE-36; HIS-63; SER-74; LEU-156; HIS-161; GLY-176; CYS-199; ILE-216; SER-235; MET-266; ALA-268 AND MET-277; 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;
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.