IthaID: 163

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 54/55 (+A) HGVS Name: HBB:c.166dupA
Hb Name: N/A Protein Info: β 55(+A); modified C-terminal sequence: (55)Asn-Gly-Gln-(58)Pro-COOH

Context nucleotide sequence:

Also known as:

Comments: Found in a heterozygous state in one individual from Maharashtra, Bombay region, during caste screening. The introduction of a nt A between codons 54 and 55 (GTTATG>GTTAATG) results in a frameshift with a nonsense codon at codon 59 (TAA) and premature termination of translation.


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70890
Size: 1 bp
Located at: β
Specific Location: Exon 2


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(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Asian Indian
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Garewal G, Fearon CW, Warren TC, Marwaha N, Marwaha RK, Mahadik C, Kazazian HH, The molecular basis of beta thalassaemia in Punjabi and Maharashtran Indians includes a multilocus aetiology involving triplicated alpha-globin loci., British journal of haematology, 86(2), 372-6, 1994 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2019-11-12 16:25:24 (Show full history)

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