IthaID: 224



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: IVS II-849 (A>C) HGVS Name: HBB:c.316-2A>C
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TTCATACCTCTTATCTTCCTCCCAC [A/C/G] GCTCCTGGGCAACGTGCTGGTCTGT (Strand: -)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71888
Size: 1 bp
Located at: β
Specific Location: Intron 2

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Splice junction (mRNA Processing)
Ethnic Origin: African-American
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Frequencies

Publications / Origin

  1. Padanilam BJ, Huisman TH, The beta zero-thalassemia in an American black family is due to a single nucleotide substitution in the acceptor splice junction of the second intervening sequence., American journal of hematology, 22(3), 259-63, 1986 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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