IthaID: 3961

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 122/123 (-CG,+GA) HGVS Name: HBA2:c.369_370delinsGA
Hb Name: Hb Nanning Protein Info: α2 122(H5) His>Gln and α2 123(H6) Ala>Thr

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: The deletion/insertion causes the change of two amino acids in the H helix of the HBA2.The transition of histidine to glutamine at codon 122 and the transversion of alanine to threonine at codon 123, that have been reported in Hb Westmead [IthaID: 730] and Hb Santa Barnabas [IthaID: 731] respectively.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34403
Size: 2 bp
Located at: α2

Other details

Type of Mutation: Insertion & Deletion
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. Chen B, Lin L, Yi S, Chen Q, Wei H, Li G, Zheng C, He S, Qiu X, A Novel Mutation of the α2-Globin Gene Causing α-Thalassemia: Hb Nanning (HBA2: c.369_370delinsGA)., Hemoglobin, 41(1), 56-58, 2017 PubMed
Created on 2022-08-17 10:20:47, Last reviewed on 2022-08-17 10:24:39 (Show full history)

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