IthaID: 98
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 30 (A>C) or IVS I (-2) AGG>CGG [Arg>Arg] | HGVS Name: | HBB:c.91A>C |
| Hb Name: | N/A | Protein Info: | β 30(B12) Arg>Arg |
Context nucleotide sequence:
TGAAGTTGGTGGTGAGGCCCTGGGC [A/C/G] GGTTGGTATCAAGGTTACAAGACAG (Strand: -)
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β+ |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70685 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Splice junction (mRNA Processing) |
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Schmugge M, Waye JS, Basran RK, Zurbriggen K, Frischknecht H, THE Hb S/beta+ -thalassemia phenotype demonstrates that the IVS-I (-2) (A>C) mutation is a mild beta-thalassemia allele., Hemoglobin, 32(3), 303-7, 2008
Created on 2010-06-16 16:13:14,
Last reviewed on 2014-04-08 14:23:19 (Show full history)
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