IthaID: 3226



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: IVS II-2 T>G HGVS Name: HBB:c.315+2T>G
Hb Name: N/A Protein Info: N/A

Comments: Mutation in the splice donor site (GT at 5′ end of intron), forming a premature stop codon in positions IVS II:19-21, thus ending protein translation.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71041
Size: 1 bp
Located at: β
Specific Location: Intron 2

Phenotype

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(Substitution)
Effect on Gene/Protein Function: Splice junction (mRNA Processing)
Ethnic Origin: Mexican
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Frequencies

Publications / Origin

  1. Rizo-de-la-Torre LC, Ibarra B, Sánchez-López JY, Magaña-Torres MT, Rentería-López VM, Perea-Díaz FJ, Three novel HBB mutations, c.-140C>G (-90 C>G), c.237_256delGGACAACCTCAAGGGCACCT (FS Cd 78/85 -20 bp), and c.315+2T>G (IVS2:2 T>G). Update of the mutational spectrum of β-Thalassemia in Mexican mestizo patients., Int J Lab Hematol , 2017 PubMed
Created on 2017-07-11 10:55:29, Last reviewed on (Show full history)

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