IthaID: 3513



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 8 AAG>AA- HGVS Name: HBB:c.27delG
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
GGTGCATCTGACTCCTGAGGAGAA [G/-] TCTGCCGTTACTGCCCTGTGGGGCA (Strand: -)

Also known as:

Comments: Found as a de novo mutation in a compound heterozygous state with Hb E in a transfusion-dependent 1-year-old child presenting with β-thalassaemia major complications. The mother was a heterozygous carrier of Hb E and the father was evaluated as normal. Paternity was confirmed. The loss of a nt G from codon 8 changes the reading frame with a stop codon at codon 18 resulting in a premature termination of translation.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70621
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(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Bangladeshi
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Hasan KN, Sufian A, Mazumder AK, Khaleque MA, Rahman M, Akhteruzzaman S, A Novel Pathogenic β-Thalassemia Mutation Identified at Codon 8 (: c.27delG) in a Bangladeshi Family Acquired ., Hemoglobin, 43(3), 162-165, 2019 PubMed
Created on 2019-12-03 09:15:28, Last reviewed on 2019-12-03 16:37:50 (Show full history)

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