IthaID: 3140

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 114 CCC>CC- HGVS Name: HBA2:c.345delC
Hb Name: N/A Protein Info: α2 114(-C); modified C-terminal sequence: (114)Pro-Pro-Ser-Ser-Pro-Leu-Arg-Cys-Thr-Pro- Pro-Trp-Thr-Ser-Ser-Trp-Leu-Leu-(132)COOH

Context nucleotide sequence:

Also known as:

Comments: The deletion creates a frame shift starting at codon Ala115. The new reading frame ends in stop codon 17 positions downstream.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34379
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Norwegian, African American
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Eng B, Patterson M, Walker L, Hoppe C, Azimi M, Lee H, Giordano PC, Waye JS, Three new alpha-thalassemia point mutations ascertained through newborn screening., Hemoglobin, 30(2), 149-53, 2006 PubMed
  2. Grimholt RM, Fjeld B, Klingenberg O, Hemoglobinopathy gone astray-three novel forms of α-thalassemia in Norwegian patients characterized by quantitative real-time PCR and DNA sequencing., Scand J Clin Lab Invest, 2021 PubMed
Created on 2017-01-17 10:53:53, Last reviewed on 2021-11-22 11:22:36 (Show full history)

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