IthaID: 1319



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 147 (+TC) HGVS Name: HBB:c.441_442insAC
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/TA] TAAGCTCGCTTTCTTGCTGTCCAAT (Strand: -)

Comments: Insertion of dinucleotide CA between codons 146 and 147, disrupting the normal stop codon at position 147 and 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.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 72015
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: Unstable
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Thai
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Frequencies

Publications / Origin

  1. 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 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2019-05-07 09:17:00 (Show full history)

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