IthaID: 3227

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 125-126 (+CCAGT) HGVS Name: HBB:c.376_380dupCCAGT
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

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 159 (vs. native stop codon at position 147), generating a slightly longer protein with unnatural C-terminus. The mutant version of mRNA was not detectable.

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71950
Size: 5 bp
Located at: β
Specific Location: Exon 3


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]

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Polish
Inheritance: Dominant
DNA Sequence Determined: Yes

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
Created on 2017-07-11 13:18:22, Last reviewed on 2019-11-12 15:14:57 (Show full history)

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