IthaID: 2201

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 107 G>A [Gly>Asp] HGVS Name: HBD:c.323G>A
Hb Name: Hb A2-Tianhe Protein Info: δ 107 Gly>Asp

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Detected in an Indian family with heterozygous β0-thal (HBB:c.92+5G>C) with normal Hb A2 levels. Detected in a Chinese proband with heterozygous β0-thal (HBB:c.126_129delCTTT) with a normal Hb A2 level.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 64531
Size: 1 bp
Located at: δ
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Indian, Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Jain S, Edison ES, Mathews V, Shaji RV, A novel δ-globin gene mutation (HBD: c.323G>A) masking the diagnosis of β-thalassemia: a first report from India., Int. J. Hematol. , 95(5), 570-2, 2012 PubMed
  2. Chen GL, Huang LY, Zhou JY, Li DZ, Hb A-Tianhe (HBD: c.323G>A): First Report in a Chinese Family with Normal Hb A-β-Thalassemia Trait., Hemoglobin, 41(0), 291-292, 2017 PubMed
Created on 2013-10-01 17:20:22, Last reviewed on 2019-09-27 12:29:21 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.