IthaID: 2437



Names and Sequences

Functionality: Globin gene causative mutation
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:
MVHLTPEEKTAVNALWGKVNVDAVGGEALDRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

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

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63271
Size: 1 bp
Located at: δ
Specific Location: Exon 1

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chinese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

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. 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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