IthaID: 342


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Init CD ATG>ACG [Met>Thr] HGVS Name: HBA2:c.2T>C
Hb Name: N/A Protein Info: α2 Initiation codon Met>Thr

Context nucleotide sequence:
CCACAGACTCAGAGAGAACCCACCA [C/T] GGTGCTGTCTCCTGCCGACAAGACC (Strand: +)

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33777
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Initiation codon (Translation)
Ethnic Origin: Mediterranean
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Publications / Origin

  1. Pirastu M, Saglio G, Chang JC, Cao A, Kan YW, Initiation codon mutation as a cause of alpha thalassemia., The Journal of biological chemistry, 259(20), 12315-7, 1984
Created on 2010-06-16 16:13:15, Last reviewed on 2014-04-08 17:09:16 (Show full history)

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