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:
TTAGTGATGGCCTGGCTCACCTGGA [C/A] AACCTCAAGGGCACCTTTGCCACAC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLENLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| 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 |
Location
| 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
Publications / Origin
- 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
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Glenthøj, Andreas | 2022-05-04 | First 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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