IthaID: 2195
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 125-127 (-CAGTGC) | HGVS Name: | HBB:c.377_382delCAGTGC |
| Hb Name: | N/A | Protein Info: | β 125(H3) - 126(H4) Pro-Val->0 |
Context nucleotide sequence:
TTTGGCAAAGAATTCACCCCAC [-/CAGTGC] AGGCTGCCTATCAGAAAGTGGTGG (Strand: -)
Also known as:
Comments: Results in a shortened β-globin chain with a stop codon at codon 144 (TAA). Reported in literature as HBB: c.376_381delCCAGTG, which does not follow the HGVS Sequence Variant Nomeclature recommendations.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | Dominant |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71951 |
| Size: | 6 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | British |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | Yes |
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
- Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016 PubMed
Created on 2013-09-30 17:29:54,
Last reviewed on 2019-11-07 14:24:58 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-09-30 17:29:54 | The IthaGenes Curation Team | Created |
| 2 | 2014-01-16 13:05:00 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-17 10:06:20 | The IthaGenes Curation Team | Reviewed. Added context sequence; corrected common name. |
| 4 | 2016-08-31 17:31:40 | The IthaGenes Curation Team | Reviewed. Confirmed by sequencing. Reference added. |
| 5 | 2019-11-07 14:24:58 | The IthaGenes Curation Team | Reviewed. Common name, HGVS name, Allele, Context Sequence, Location and Effect corrected. Comment added. |
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IthaGenes was last updated on 2024-11-20 13:24:07