IthaID: 3147


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: Init CD ATG>AAG [Met>Lys] HGVS Name: HBA1:c.2T>A
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CCCACAGACTCAGAGAGAACCCACCA [T>A] GGTGCTGTCTCCTGCCGACAAGAC (Strand: +)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External 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: 37581
Size: 1 bp
Located at: α1
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Waye JS, Eng B, Hanna M, Hohenadel BA, Nakamura L, Walker L, Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG or HBA1:c.2T>A)., Hemoglobin , 40(5), 369-370, 2016
Created on 2017-01-24 10:55:39, Last reviewed on 2018-02-27 18:11:30 (Show full history)

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