IthaID: 3396



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: IVS I-113 C>A HGVS Name: HBA2:c.96-5C>A
Hb Name: Hb Beach Haven Protein Info: N/A

Context nucleotide sequence:
CCCCACCCCTCACTCTGCTTCTCCC [C/A] GCAGGATGTTCCTGTCCTTCCCC (Strand: +)

Comments: Found in cis with -α3.7 in a proband with Hb H disease (--FIL/-α3.7). This variant creates a new 3' acceptor splice site in the IVS I of HBA2 gene, three nucleotides upstream of the wild-type splice site. Because this is in frame, any transcript produced using this site will insert a serine (instead of arginine) at codon position 31, possibly destabilizing the α1β1 interface. Although the new acceptor splice site is the first AG, it is not used preferentially over the wild-type site. The new acceptor splice site is used in ~35% of α-globin mRNA transcripts. As a result, the lowered expression of normal α-globin transcript from this allele predicts for a more severe form of Hb H disease.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33983
Size: 1 bp
Located at: α2
Specific Location: Intron 1

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: N/A
Allele Phenotype:α⁺
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Consensus splice site (mRNA Processing)
Ethnic Origin: Filipino
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Unknown

Sequence Viewer

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Publications / Origin

  1. Van de Water N, Tan T, Crowley M, Kerr R, Browett P, Novel α-Globin Splice Site Mutation (HBA2: c.96-5C>A) in Combination with Three-Gene Deletion Hb H Disease., Hemoglobin, 42(2), 122-125, 2018 PubMed
Created on 2019-04-11 15:07:29, Last reviewed on (Show full history)

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