IthaID: 3217

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 31 AGG>TGG [Arg>Trp] HGVS Name: HBA2:c.94A>T
Hb Name: Hb Debao Protein Info: α2 31(B12) Arg>Trp

Protein sequence:

Also known as:

Comments: Mutation in the B-helix of the α2-globin chain, located in the conserved motif of the first exon-intron junction. It produces a mild phenotype in association with an α+ thalassemia deletion and a severe form of Hb H (β4) disease in combination with an α0 thalassemia deletion. It cannot be detected by usual electrophoretic or chromatographic methods, hence it is presumed to be hyperunstable.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α⁺
Stability: Hyperunstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33869
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Cryptic splice site (mRNA Processing), Missense codons (Protein Structure)
Ethnic Origin: Chinese
Molecular mechanism: Altered α1β1 interface
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Lin L, Chen B, Yi S, Chen Q, Wei H, Li G, Zheng C, Qiu XX, He S, A Novel α2-Globin Gene Mutation: Hb Debao [α31(B12)Arg→Trp; HBA2: c.94A>T]., Hemoglobin, 41(1), 65-67, 2017 PubMed
Created on 2017-05-08 11:51:28, Last reviewed on 2019-04-04 15:56:09 (Show full history)

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