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:

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


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


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

Sequence Viewer

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Publications / Origin

  1. 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)

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