IthaID: 3404
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 133-135 (-AGCACCG) | HGVS Name: | HBA2:c.400_406del |
| Hb Name: | Hb Aalesund | Protein Info: | α2 133-135 (-AGCACCG); modified C-terminal sequence |
Also known as:
Comments: Found as a heterozygote. The 7 base-pair deletion creates a frameshift in codon 133 and the new reading frame ends in a termination codon two positions downstream, in the last exon of the HBA2 gene. The PTC in Hb Aalesund would most likely bypass the nonsense-mediated decay mechanism and an unstable truncated protein will be translated. The truncated α chain in Hb Aalesund is missing leucine at position 136(H19), which is one of the amino acids lining the interior of the heme pocket. This might affect the stability of the protein. Interfers with HbA1c measurement, causing a falsely high HbA1c with certain instruments.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Hyperunstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34434 |
| Size: | 7 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Norwegian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Grimholt RM, Fjeld B, Selsås H, Schwettmann L, Klingenberg O, Hb Aalesund (: c.400_406delAGCACCG), an Unstable α-Globin Variant Found in a Norwegian Patient Causing Moderate Hemolytic Anemia and Falsely High Hb A Using Ion Exchange High Performance Liquid Chromatography., Hemoglobin, 43(2), 122-125, 2019