IthaID: 405


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 116 GAG>TAG HGVS Name: HBA2:c.349G>T
Hb Name: N/A Protein Info: α2 116(GH4) Glu>Stop

Context nucleotide sequence:
GACCCTGGCCGCCCACCTCCCCGCC [A/C/G/T] AGTTCACCCCTGCGGTGCACGCCTC (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: 34383
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Liebhaber SA, Coleman MB, Adams JG, Cash FE, Steinberg MH, Molecular basis for nondeletion alpha-thalassemia in American blacks. Alpha 2(116GAG----UAG)., The Journal of clinical investigation, 80(1), 154-9, 1987
Created on 2010-06-16 16:13:15, Last reviewed on 2014-04-08 17:36:24 (Show full history)

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