IthaID: 1246



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 129 GCC>GAC [Ala>Asp] HGVS Name: HBB:c.389C>A
Hb Name: Hb J-Taichung Protein Info: β 129(H7) Ala>Asp

Context nucleotide sequence:
GAATTCACCCCACCAGTGCAGGCTG [A/C/T] CTATCAGAAAGTGGTGGCTGGTGTG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQADYQKVVAGVANALAHKYH

Comments: Replacement of alanyl residue at position β129 in the H-helix (Η7) by a negatively charged aspartyl residue. Detected by haemoglobin electrophoresis and DNA sequencing. Reported as a non-pathological, stable β-chain variant that does not produce anaemia.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71963
Size: 1 bp
Located at: β
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-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: N/A
Ethnic Origin: Chinese, Taiwanese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Blackwell RQ, Yang HJ, Wang CC, Hemoglobin J Taichung:beta-129 ALA--ASP., Biochimica et biophysica acta, 194(1), 1-5, 1969 PubMed
  2. Lin TH, Er TK, Liu SC, Lin IC, Cheng HL, Peng CT, Shih HC, Chang JG, Molecular characterisation and diagnosis of Hb J-Taichung (129[H7]Ala-->Asp) in a Taiwanese family subject., Br. J. Biomed. Sci., 67(1), 31-4, 2010 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2019-06-20 09:40:45 (Show full history)

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