IthaID: 2407
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 49-55 (-19 bp +4 bp) | HGVS Name: | HBB:c.149_167delinsAGCT |
| Hb Name: | Hb Martinez | Protein Info: | β 49 - 55 (-TCCACTCCTGATGCTGTTA); modified C-terminal sequence AND β 49(+AGCT); modified C-terminal sequence |
Context nucleotide sequence:
GTTCTTTGAGTCCTTTGGGGATCTGT [AGCT/CCACTCCTGATGCTGTTAT] GGGCAACCCTAAGGTGAAGGCTCA (Strand: -)
Also known as:
Comments: Deletion of 19 nts (CCACTCCTGATGCTGTTAT) from codons 49-55 and insertion of nts AGCT. Reported in literature as HBB:c.148_166delinsAGCT, which does not follow the HGVS Sequence Variant Nomeclature recommendations.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | β+ Unclear |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70873 |
| Size: | 19 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | American-Indian |
| 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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Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Created on 2014-05-28 09:24:50,
Last reviewed on 2019-11-11 16:47:15 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-05-28 09:24:50 | The IthaGenes Curation Team | Created |
| 2 | 2015-12-07 12:30:04 | The IthaGenes Curation Team | Reviewed. Mutation type and effect corrected. |
| 3 | 2019-11-11 16:46:16 | The IthaGenes Curation Team | Reviewed. HGVS name, DNA info and Location corrected. Comment added. |
| 4 | 2019-11-11 16:47:15 | The IthaGenes Curation Team | Reviewed. Specific location added. |
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IthaGenes was last updated on 2024-11-20 13:24:07