IthaID: 3335

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 73 GAT>GTT [Asp>Val] HGVS Name: HBD:c.221A>T
Hb Name: Hb A2-Henan Protein Info: N/A

Protein sequence:

Comments: Missense variant homologous to the β-globin gene variant called Hb Mobile.

External Links

No available links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 63531
Size: 1 bp
Located at: δ
Specific Location: Exon 2


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: Chinese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Sun M, Lou J, Zhao Y, Liu Y, Molecular and Hematological Characterization of Two Novel δ-Globin Gene Mutations Found in Chinese Individuals., Hemoglobin , 2018 PubMed
Created on 2018-06-04 19:18:28, Last reviewed on (Show full history)

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