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
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
Created on 2014-10-09 12:05:39,
Last reviewed on 2017-06-14 12:48:25 (Show full history)
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