IthaID: 3919

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 79 GAC>GAA [Asp>Glu] HGVS Name: HBB:c.240C>A
Hb Name: Hb Kalundborg Protein Info: β 79(EF3) Asp>Glu

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in a female with normal haematology. Hb variant showed slightly reduced oxygen affinity on whole blood study and interfered with HbA1c measurement by HPLC causing falsely high HbA1c concentration with Tosoh G11 (Sysmex) apparatus.

External Links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: Decreased Oxygen Affinity
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70964
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Caucasian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Ahmad-Nielsen EB, Szecsi PB, Bratholm PS, Petersen J, Glenthøj A, Hb Kalundborg [β79(EF3)Asp→Glu; : c.240C>a], a Possible Low-affinity Hemoglobin Variant Detected during Hb A Measurement., Hemoglobin, 2022 PubMed


1Glenthøj, Andreas2022-05-04First report.
Created on 2022-05-06 10:31:33, Last reviewed on 2022-08-08 15:23:45 (Show full history)

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