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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-04-08 17:36:24 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.