IthaID: 3464


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CAP +3 A>T HGVS Name: HBB:c.-48A>T
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
AGGGCAGAGCCATCTATTGCTTAC [A>T] TTTGCTTCTGACACAACTGTGTT (Strand: -)

Also known as:

Comments: The nucleotide +3(A) from the CAP site is part of the initiator element (consensus sequence: Py-Py(C)-A+1-N-T/A-Py-Py) and an overlapping E-box (consensus sequence: CANNTG), possibly contributing to the efficient assembly of preinitiation complex on the β-globin gene. Co-inherited with 92+1G>A mutation in a case of β-thalassemia intermedia. Source: Romanian Biotechnological Letters, Vol. 16, No. 2, 2011

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β++ (silent)
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70547
Size: 1 bp
Located at: β
Specific Location: 5'UTR

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: 5'UTR (Transcription)
Ethnic Origin: Romanian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Agouti I, Bennani M, Nezri M, Levy N, Badens C, Beta-thalassemia intermedia due to two novel mutations in the promoter region of the beta-globin gene., Eur. J. Haematol. , 80(4), 346-50, 2008
Created on 2019-09-27 11:55:33, Last reviewed on 2021-08-27 12:04:31 (Show full history)

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