IthaID: 176
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 71 (+T) | HGVS Name: | HBB:c.216dupT |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
TGGCAAGAAAGTGCTCGGTGCCTTT [-/T] AGTGATGGCCTGGCTCACCTGGACA (Strand: -)
Also known as:
Comments: Found in two members of a family; in a heterozygous state in the father and in combination with HBB:c.316-197C>T in his son. The introduction of a nt T between codons 71 and 72 (TTTAGT>TTTTAGT) results in a frameshift with a nonsense codon at codon 72 (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: | 70940 |
| 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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Frequencies
Publications / Origin
- Chan V, Chan TK, Todd D, A new codon 71 (+T) mutant resulting in beta zero thalassemia., Blood, 74(6), 2304, 1989 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2019-11-12 10:15:52 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-06-04 12:37:34 | The IthaGenes Curation Team | Reviewed. ClinVar link added. |
| 4 | 2019-11-12 10:15:52 | The IthaGenes Curation Team | Reviewed. Common name and HGVS name corrected. Comment added. |
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IthaGenes was last updated on 2024-11-20 13:24:07