IthaID: 2437

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 29 GGC>GAC [Gly>Asp] HGVS Name: HBD:c.89G>A
Hb Name: Hb A2-Hong Kong Protein Info: δ 29(B11) Gly>Asp

Protein sequence:

Also known as:

Comments: The mutation is identical to that of Hb Lufkin (ithaID: 905) in the β chain.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External 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: 63271
Size: 1 bp
Located at: δ
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
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. So CC, Chan AY, Luo HY, Verhovsek M, Chui DH, Ling SC, Chan LC, Hb A2 Hong Kong - A novel δ-globin variant in a Chinese family masks the diagnosis of β-thalassemia trait., Hemoglobin , 35(2), 162-5, 2011 PubMed
Created on 2014-05-30 20:28:34, Last reviewed on 2018-02-15 18:48:03 (Show full history)

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