ABO Back

ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)

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NCBI Description of ABO
This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. Sequence Note: This RefSeq record represents the ABO*A1.01.1.1 allele.

Community Annotation of ABO Add / Edit ABO: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

ABO is highly significantly mutated in
(none)
ABO is significantly mutated in
(none)
ABO is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for ABO