IthaID: 177
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 71/72 (+A) | HGVS Name: | HBB:c.217dupA |
| Hb Name: | N/A | Protein Info: | β 72(+A); modified C-terminal sequence: (72)Lys-COOH |
Context nucleotide sequence:
GGCAAGAAAGTGCTCGGTGCCTTT [-/A] AGTGATGGCCTGGCTCACCTGG (Strand: -)
Also known as:
Comments: The introduction of a nt A between codons 71 and 72 (TTTAGT>TTTAAGT) results in a frameshift with a nonsense codon at codon 73 (TGA) and premature termination of translation.
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: | 70941 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Cheng TC, Orkin SH, Antonarakis SE, Potter MJ, Sexton JP, Markham AF, Giardina PJ, Li A, Kazazian HH, beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects., Proceedings of the National Academy of Sciences of the United States of America, 81(9), 2821-5, 1984
Created on 2010-06-16 16:13:15,
Last reviewed on 2019-11-12 16:26:35 (Show full history)
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