IthaID: 2480



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 129 CTG>-TG HGVS Name: HBA2:c.388delC
Hb Name: Hb Hamilton Hill Protein Info: α2 129 (-C); modified C-terminal sequence

Comments: As a result of this base deletion, a frameshift in the open reading frame generates a premature termination codon at codon 132 of exon 3 resulting in the formation of a truncated α-globin chain. This deletion affects α-globin gene expression at both transcriptional and translation levels.

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34422
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

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

Sequence Viewer

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Publications / Origin

  1. Qadah T, Finlayson J, North E, Ghassemifar R, Molecular characterization of Hb Hamilton Hill (HBA2: c.388delC), a novel HBA2 variant generating a premature termination codon and truncated HBA2 chain., Hemoglobin , 39(2), 88-94, 2015 PubMed
Created on 2014-06-04 10:15:21, Last reviewed on 2016-09-08 19:35:59 (Show full history)

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