IthaID: 2529
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 50 +GGAGCC | HGVS Name: | HBA1:c.151_152insGGAGCC |
| Hb Name: | Hb Bakersfield | Protein Info: | α1 50(CE8) His->0 AND Arg-Ser-His- inserted between 49(CE7) and 51(CE9) |
Context nucleotide sequence:
CTACTTCCCGCACTTCGACCTGAGC [-/GGAGCC] ACGGCTCTGCCCAGGTTAAGGGCCA (Strand: +)
Also known as:
Comments: The Hb Bakersfield mutation is an in-frame insertion in the α1-globin gene, encoding a stable high oxygen affinity Hb variant that may lead to erythrocytosis and macrocytosis.
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: | N/A |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37847 |
| Size: | 6 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Insertion/Deletion of codons (Protein Structure) |
| Ethnic Origin: | Jurassian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Brunner-Agten S, von Känel T, Röthlisberger B, Broquet C, Huber AR, Hb Bakersfield (HBA1: c.151_152insGGAGCC): The Insertion of Arg-His Between Codons 49 and 50 of the α1-Globin Chain Leads to Increased Oxygen Affinity., Hemoglobin , 41(1), 1-5, 2017 PubMed
Created on 2014-10-09 12:05:39,
Last reviewed on 2017-06-14 12:48:25 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-10-09 12:05:39 | The IthaGenes Curation Team | Created |
| 2 | 2017-06-14 12:30:09 | The IthaGenes Curation Team | Reviewed. Allele phenotype and Other details sections updated. Mutation comment and Reference added. |
| 3 | 2017-06-14 12:32:11 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2017-06-14 12:42:27 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2017-06-14 12:44:59 | The IthaGenes Curation Team | Reviewed. |
| 6 | 2017-06-14 12:48:25 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-11-20 13:24:07