IthaID: 3228

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 116 CAT>-AT HGVS Name: HBB:c.349del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Found as a heterozygote with a thalassemia intermedia phenotype and a dominant transmission pattern. Frameshift mutation that creates a novel transcription termination site at position 157 (vs. native stop codon at position 147), generating a slightly longer protein with unnatural C-terminus. The mutant version of mRNA was not detectable.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71923
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Polish
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Rawa K, Szczesny RJ, Owczarek EP, Adamowicz-Salach A, Klukowska A, Demkow U, Plochocka D, Szczesny P, Gora M, Dziembowski A, Burzynska B, Two novel C-terminal frameshift mutations in the β-globin gene lead to rapid mRNA decay., BMC Med. Genet. , 18(1), 65, 2017 PubMed
Created on 2017-07-11 13:26:35, Last reviewed on (Show full history)

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