IthaID: 223
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | IVS II-849 (A>G) | HGVS Name: | HBB:c.316-2A>G |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
TTCATACCTCTTATCTTCCTCCCAC [A/C/G] GCTCCTGGGCAACGTGCTGGTCTGT (Strand: -)
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71888 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Intron 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Splice junction (mRNA Processing) |
| Ethnic Origin: | African-American |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Antonarakis SE, Irkin SH, Cheng TC, Scott AF, Sexton JP, Trusko SP, Charache S, Kazazian HH, beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site., Proceedings of the National Academy of Sciences of the United States of America, 81(4), 1154-8, 1984
- Atweh GF, Anagnou NP, Shearin J, Forget BG, Kaufman RE, Beta-thalassemia resulting from a single nucleotide substitution in an acceptor splice site., Nucleic acids research, 13(3), 777-90, 1985
Created on 2010-06-16 16:13:15,
Last reviewed on 2013-10-15 17:28:32 (Show full history)
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