IthaID: 392


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: IVS II-142 G>A HGVS Name: HBA2:c.301-1G>A
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CCCCACTGACCCTCTTCTCTGCACA [G>A] CTCCTAAGCCACTGCCTGCTGGTGACCCTG (Strand: +)

Also known as:

Comments: Mutation involves the splice acceptor site (AG>AA) and thus affects RNA processing, leading to a complete suppression of the alpha-globin chain production. Patient presents with Hb H disease.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34334
Size: 1 bp
Located at: α2
Specific Location: Intron 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Consensus splice site (mRNA Processing)
Ethnic Origin: Arab/Italian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Noguera NI, González FA, Dávoli RA, Milani AC, Villegas A, A novel splice acceptor site mutation of the alpha2-globin gene causing alpha-thalassemia., Hemoglobin, 25(3), 311-5, 2001
Created on 2010-06-16 16:13:15, Last reviewed on 2016-09-06 11:53:37 (Show full history)

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