IthaID: 2206

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 8 (-C) HGVS Name: HBA2:c.27delC
Hb Name: N/A Protein Info: α2 8 (-C); modified C-terminal sequence: (8)Thr-Thr-Ser-Arg-Pro-Pro-Gly-Val-Arg-Ser- Ala-Arg-Thr-Leu-Ala-Ser-Met-Val-Arg-Arg- Pro-Trp-Arg-Gly-Cys-Ser-Cys-Pro-Ser-Pro- Pro-Pro-Arg-Pro-Thr-Ser-Arg-Thr-Ser-Thr-(48)COOH

Also known as:

Comments: The frameshift gives rise to a premature termination signal within exon 2 at codon 48.

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: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33802
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Tang HS, Zhou JY, Xie XM, Li R, Liao C, Li DZ, A novel α-thalassemia frameshift mutation: codon 8 (-C)., Hemoglobin , 36(2), 192-5, 2012 PubMed
Created on 2013-10-02 10:07:45, Last reviewed on 2022-08-12 10:07:42 (Show full history)

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