IthaID: 358


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: IVS I-1 AGGT>AGAT donor HGVS Name: HBA1:c.95+1G>A
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The splice donor site consensus sequence leads to the activation of a cryptic splice donor site 49 bp upstream of the normal site and consequently a premature stop codon between codons 48 and 49.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37675
Size: 1 bp
Located at: α1
Specific Location: Intron 1

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Harteveld CL, Beijer C, van Delft P, Zanardini R, Bernini LF, Giordano PC, alpha-thalassaemia as a result of a novel splice donor site mutation of the alpha1-globin gene., British journal of haematology, 110(3), 694-8, 2000
  2. Viprakasit V, Ekwattanakit S, Chalaow N, Riolueang S, Wijit S, Tanyut P, Chat-Uthai N, Tachavanich K, Clinical presentation and molecular identification of four uncommon alpha globin variants in Thailand. Initiation codon mutation of α2-globin Gene (HBA2:c.1delA), donor splice site mutation of α1-globin gene (IVSI-1, HBA1:c.95 + 1G>A), hemoglobin Queens Park/Chao Pra Ya (HBA1:c.98T>A) and hemoglobin Westmead (HBA2:c.369C>G)., Acta Haematol. , 131(2), 88-94, 2014
Created on 2010-06-16 16:13:15, Last reviewed on 2017-06-01 15:48:26 (Show full history)

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