IthaID: 2201



Names and Sequences

Functionality: Globin gene causative mutation
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:
CCTACCTCTTCTCCGCAGCTCTTGG [G>A] CAATGTGCTGGTGTGTGTGCTG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLRNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

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.

External Links

No available links

Location

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

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: Indian, Chinese
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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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)

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