IthaID: 1358

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 22 GCA>GAA [Ala>Glu] HGVS Name: HBD:c.68C>A
Hb Name: Hb A2-Flatbush Protein Info: δ 22(B4) Ala>Glu

Context nucleotide sequence:

Protein sequence:


Chromosome: 11
Locus: NG_000007.3
Locus Location: 63250
Size: 1 bp
Located at: δ
Specific Location: Exon 1


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: African
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Jones RT, Brimhall B, Huisman TH, Structural characterization of two delta chain variants. Hemoglobin A'-2 (B2) and hemoglobin Flatbush., The Journal of biological chemistry, 242(21), 5141-5, 1967 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2015-12-07 16:57:46 (Show full history)

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