U.S. flag

An official website of the United States government

NM_020469.3(ABO):c.700C>G (p.Pro234Ala) AND ABO blood group system

Germline classification:
Affects (1 submission)
Last evaluated:
Aug 27, 1999
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000019313.29

Allele description [Variation Report for NM_020469.3(ABO):c.700C>G (p.Pro234Ala)]

NM_020469.3(ABO):c.700C>G (p.Pro234Ala)

Gene:
ABO:ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.2
Genomic location:
Preferred name:
NM_020469.3(ABO):c.700C>G (p.Pro234Ala)
HGVS:
  • NC_000009.12:g.133256031G>C
  • NG_006669.1:g.21637C>G
  • NG_006669.2:g.24185C>G
  • NM_020469.3:c.700C>G
  • NP_065202.2:p.Pro234Ala
  • LRG_792t1:c.700C>G
  • LRG_792:g.24185C>G
  • LRG_792p1:p.Pro234Ala
  • NC_000009.11:g.136131418G>C
Protein change:
P234A; PRO234ALA
Links:
OMIM: 110300.0005; dbSNP: rs55722397
NCBI 1000 Genomes Browser:
rs55722397
Molecular consequence:
  • NM_020469.3:c.700C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
ABO blood group system
Synonyms:
ABO BLOOD GROUP SYSTEM, O PHENOTYPE; ABO BLOOD GROUP SYSTEM, A/B POLYMORPHISM; ABO BLOOD GROUP SYSTEM, A2 PHENOTYPE; See all synonyms [MedGen]
Identifiers:
MedGen: C0000778; OMIM: 616093; Human Phenotype Ontology: HP:0032224

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039602OMIM
no assertion criteria provided
Affects
(Aug 27, 1999) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Details of each submission

From OMIM, SCV000039602.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 3 members of a family with the B(A) blood group phenotype of the ABO system (616093), Yu et al. (1999) identified a 700C-G transversion in the gene encoding the B transferase, resulting in a pro234-to-ala (P234A) substitution. The substitution occurs just ahead of the second of 4 amino acid residues that differentiate the specificities of the A and B transferases. Functional expression studies showed that the P234A substitution resulted in lower transferase B activity than wildtype, which correlated with the observation of a smaller amount of B antigen on the individuals' B(A) red cells. The substitution also resulted in higher transferase A activity compared to the minute amount of transferase A activity present in wildtype group B sera. Yu et al. (1999) concluded that the B(A) phenotype in this family was due to shifting of the specificity of transferase B rather than to enhanced transferase B activity. The findings showed that not only the 4 critical residues but also neighboring areas may influence the specificity of the A and B transferases.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022