IthaID: 2465



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 19 GCG>GC- HGVS Name: HBA2:c.60delG
Hb Name: N/A Protein Info: p.His21Thrfs*29

Context nucleotide sequence:
GGCCGCCTGGGGTAAGGTCGGCGC [-/G] CACGCTGGCGAGTATGGTGCGGAG (Strand: +)

Also known as:

Comments: Detected as a homozygote and heterozygote in Iranian subjects with elevated Hb Bart's levels. The deletion of nt 'G' in codon 19 (GCG) creates a frameshift leading to a premature stop codon at codon 48 (TGA).

External Links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33835
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Other details

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

Sequence Viewer

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Publications / Origin

  1. Harteveld CL, Yavarian M, Zorai A, Quakkelaar ED, van Delft P, Giordano PC, Molecular spectrum of alpha-thalassemia in the Iranian population of Hormozgan: three novel point mutation defects., American journal of hematology, 74(2), 99-103, 2003 PubMed
Created on 2014-06-03 15:45:02, Last reviewed on 2020-04-21 19:45:24 (Show full history)

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