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UniProtKB/Swiss-Prot P16442: Variant p.Val36Phe

Histo-blood group ABO system transferase
Gene: ABO
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Variant information Variant position: help 36
Type of variant: help LB/B
Residue change: help From Valine (V) to Phenylalanine (F) at position 36 (V36F, p.Val36Phe).
Physico-chemical properties: help Change from medium size and hydrophobic (V) to large size and aromatic (F)
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).
Other resources: help


Sequence information Variant position: help 36
Protein sequence length: help 354
Location on the sequence: help ALRPMILFLIMLVLVLFGYG V LSPRSLMPGSLERGFCMAVR
Residue conservation: help
Human                         ALRPMILFLIMLVLVLFGYGVLSPRSLMPGSLERGFCMAVR

Mouse                         FLHLGILPFAVFVLVFFGYLFLSFRSQNLG-----------

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 354 Histo-blood group ABO system transferase
Transmembrane 33 – 53 Helical; Signal-anchor for type II membrane protein



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;
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.