IthaID: 2221



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 115 -GAGTTCACCCC [166 aa] HGVS Name: HBA2:c.349_359delGAGTTCACCCC
Hb Name: N/A Protein Info: α2 116 - 119 (-GAGTTCACCCC); modified C-terminal sequence

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34383
Size: 11 bp
Located at: α2
Specific Location: Exon 3

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Pakistani
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Brennan SO, Chan T, Duncan J, Novel α2 gene deletion (c.349_359 del GAGTTCACCCC) identified in association with the -α3.7 deletion., Hemoglobin , 36(1), 93-7, 2012 PubMed
Created on 2013-10-02 14:21:31, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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