IthaID: 40

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CAP +41 to +44 (-AACA) HGVS Name: HBB:c.-10_-7delAACA
Hb Name: N/A Protein Info: β nts 40 - 43 deleted

Context nucleotide sequence:

Also known as: CAP +40 to +43 (-AAAC)

Comments: Found in a heterozygous state during molecular screening. In vitro experiments did not show functional effects of the genetic variant. Further investigation was suggested. Papers reported a 4 bp deletion -AAAC [HBB: c.-11_-8delAAAC], which does not follow the 3' prime rule of HGVS recommendations.

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70585
Size: 4 bp
Located at: β
Specific Location: 5'UTR

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: 5'UTR (Transcription)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Huang SZ, Xu YH, Zeng FY, Wu DF, Ren ZR, Zeng YT, A novel beta-thalassaemia mutation: deletion of 4 bp (-AAAC) in the 5' transcriptional sequence., British journal of haematology, 78(1), 125-6, 1991 PubMed
  2. Francès V, Morlé F, Godet J, Functional analysis of the 4 bp deletion identified in the 5' untranslated region of one of the beta-globin genes from a Chinese beta-thalassaemic heterozygote., Br. J. Haematol. , 84(1), 163-5, 1993 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2021-12-15 11:39:21 (Show full history)

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