IthaID: 428



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: 3' UTR -16 bp (giving rise to CATAAA) HGVS Name: HBA2:c.*74_*89delCCTTCCTGGTCTTTGA
Hb Name: N/A Protein Info: α2 nts 799 - 814 deleted

Context nucleotide sequence:
GCCCTCCTCCCCTCCTTGCACCGGC [-/CCTTCCTGGTCTTTGA] ATAAAGTCTGAGTGGGCAGCAGCCT (Strand: +)

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34537
Size: 16 bp
Located at: α2
Specific Location: 3'UTR 0, Poly(A) 0

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α+/α0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Other 3'UTR site (mRNA Processing)
Ethnic Origin: Arab
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Tamary H, Klinger G, Shalmon L, Attias D, Fortina P, Kobayashi M, Surrey S, Zaizov R, alpha-thalassemia caused by a 16 bp deletion in the 3' untranslated region of the alpha 2-globin gene including the first nucleotide of the poly A signal sequence., Hemoglobin, 21(2), 121-30, 1997 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-04-08 17:45:11 (Show full history)

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