IthaID: 1246
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| 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 [C>A] CTATCAGAAAGTGGTGGCTGGTGTG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQADYQKVVAGVANALAHKYH
Also known as: Hb K-Cameroon
Comments: Hb J-Taichung was detected by haemoglobin electrophoresis and DNA sequencing, and reported as a non-pathological, stable β-chain variant that does not produce anaemia. It is characterized by replacement of the alanyl residue at position β129 in the H-helix (Η7) by a negatively charged aspartyl residue. Also reported in public databases as Hb K-Cameroon (HBB:p.[Ala130Asp or Ala130Glu]) based on an incomplete protein analysis.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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 |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71963 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Chinese, Taiwanese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Blackwell RQ, Yang HJ, Wang CC, Hemoglobin J Taichung:beta-129 ALA--ASP., Biochimica et biophysica acta, 194(1), 1-5, 1969
- 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