IthaID: 3944


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 64 (+G) HGVS Name: HBB:c.194dup
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
GCAACCCTAAGGTGAAGGCTCATG [-/G] CAAGAAAGTGCTCGGTGCCTTTAG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGQESARCL*

Also known as:

Comments: Found as a novel mutation in a 46-year-old male in compound heterozygosity with HbE and in association with anti-3.7 and anti-4.2 (six α genes). The C duplication causes a frameshift that introduces a premature stop codon eight amino acids further down the new reading frame (codon 72 of the HBB gene).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70918
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Huang J, Ding L, Chen J, Chen S, Tian P, Xie J, Huang X, Xin X, Characterization of a novel HBB:c.194dup variant of the -globin gene combined with six alpha genes., J Int Med Res, 50(5), 3000605221099013, 2022
Created on 2022-07-14 10:43:10, Last reviewed on 2022-07-14 10:50:45 (Show full history)

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