IthaID: 3267


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 23 GAG>TAG HGVS Name: HBA1:c.70G>T
Hb Name: N/A Protein Info: N/A

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGX

Also known as:

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: 37649
Size: 1 bp
Located at: α1
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Nonsense codon (Translation)
Ethnic Origin: Italian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Cardiero G, Scarano C, Musollino G, Di Noce F, Prezioso R, Dembech S, La Porta G, Bisconte MG, Colella R, Lacerra G, Role of NMD and NAS in the mRNA pattern of two new α-thalassemia mutants., Int. J. Biochem. Cell Biol. , 2017
Created on 2017-09-28 18:52:36, Last reviewed on 2022-07-12 12:03:08 (Show full history)

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