IthaID: 3632
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 76/77 (+T) | HGVS Name: | HBB:c.231_232insT |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
ACGCCGTGGCGCACGTGGACGACATG [-/T] CCCAACGCGCTGTCCGCCCTGAGCG (Strand: -)
Also known as:
Comments: Found together with Hb Sallanches (HBA2:c.314G>A) and polyA (HBA2:c.*93_*94delAA) in two subjects with HbH disease. The insertion of a nt T in codons 76/77 causes a frameshift mutation. Source: doi.org/10.1182/blood.V124.21.1358.1358
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34123 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Created on 2020-09-28 13:01:02,
Last reviewed on (Show full history)
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