IthaID: 1319
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 146/147 (+AC) | HGVS Name: | HBB:c.440_441dupAC |
| Hb Name: | Hb Tak | Protein Info: | β 147(+AC); modified C-terminal sequence: (147)Thr-Lys-Leu- Ala-Phe-Leu-Leu-Ser-Asn-Phe-(157)Tyr-COOH |
Context nucleotide sequence:
TAATGCCCTGGCCCACAAGTATCAC [-/AC] TAAGCTCGCTTTCTTGCTGTCCAAT (Strand: -)
Also known as:
Comments: Insertion of dinucleotide AC between codon 146 and nonsense codon 147 (TAA), causing the elongation of the β-chain by 11 amino acid residues at its C-terminus. The resulting haemoglobin Tak has high oxygen affinity, causing secondary polycythemia.
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: | Unstable |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 72014 |
| Size: | 2 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Hoyer JD, Wick MJ, Thibodeau SN, Viker KA, Conner R, Fairbanks VF, Hb Tak confirmed by DNA analysis: not expressed as thalassemia in a Hb Tak/Hb E compound heterozygote., Hemoglobin, 22(1), 45-52, 1998
Created on 2010-06-16 16:13:17,
Last reviewed on 2019-11-12 16:35:03 (Show full history)
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