IthaID: 3484



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 30 (-A) or IVS I (-2) AGG>-GG HGVS Name: HBB:c.91delA
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deleted nt A changes the splice receptor site of intron 1, which likely abolishes the splicing at the normal 5′ splicing site according to the GU-AG rule and causes partial intron 1 to remain in the mature mRNA, forming an immature stop codon (IVS I 128-130, TAG). Found as a heterozygote in a patient with β-thalassaemia.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70685
Size: 1 bp
Located at: β
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Splice junction (mRNA Processing)
Ethnic Origin: Chinese Han
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Jia W, Wang W, Zhu H, Chen P, A Novel Mutation at HBB: c.91delA (Codon 30, -A) Causing β-Thalassemia in a Chinese Family., Acta Haematol., 2019 PubMed
Created on 2019-11-04 15:31:13, Last reviewed on 2019-11-04 15:32:00 (Show full history)

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