IthaID: 40
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CAP +41 to +44 (-AACA) | HGVS Name: | HBB:c.-10_-7delAACA |
| Hb Name: | N/A | Protein Info: | β nts 40 - 43 deleted |
Context nucleotide sequence:
CACAACTGTGTTCACTAGCAACCTCA [-/AACA] GACACCATGGTGCATCTGACTCCT (Strand: -)
Also known as: CAP +40 to +43 (-AAAC)
Comments: Found in a heterozygous state during molecular screening. In vitro experiments did not show functional effects of the genetic variant. Further investigation was suggested. Papers reported a 4 bp deletion -AAAC [HBB: c.-11_-8delAAAC], which does not follow the 3' prime rule of HGVS recommendations.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β+ |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70585 |
| Size: | 4 bp |
| Located at: | β |
| Specific Location: | 5'UTR |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | 5'UTR (Transcription) |
| 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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Publications / Origin
- Huang SZ, Xu YH, Zeng FY, Wu DF, Ren ZR, Zeng YT, A novel beta-thalassaemia mutation: deletion of 4 bp (-AAAC) in the 5' transcriptional sequence., British journal of haematology, 78(1), 125-6, 1991 PubMed
- Francès V, Morlé F, Godet J, Functional analysis of the 4 bp deletion identified in the 5' untranslated region of one of the beta-globin genes from a Chinese beta-thalassaemic heterozygote., Br. J. Haematol. , 84(1), 163-5, 1993 PubMed
Created on 2010-06-16 16:13:14,
Last reviewed on 2021-12-15 11:39:21 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:14 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-06-04 13:24:25 | The IthaGenes Curation Team | Reviewed. External links added. |
| 4 | 2019-11-04 11:52:34 | The IthaGenes Curation Team | Reviewed. Comment added. |
| 5 | 2019-11-04 11:53:33 | The IthaGenes Curation Team | Reviewed. |
| 6 | 2019-11-04 11:54:08 | The IthaGenes Curation Team | Reviewed. Clinical phenotype corrected. |
| 7 | 2019-11-06 13:09:06 | The IthaGenes Curation Team | Reviewed. Common name, HGVS name, Context sequence, Location and Comment corrected. sbSNP link removed. |
| 8 | 2020-11-10 13:13:22 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. |
| 9 | 2020-11-10 13:15:24 | The IthaGenes Curation Team | Reviewed. Link added. |
| 10 | 2021-12-15 11:39:21 | The IthaGenes Curation Team | Reviewed. Other name added, Comment updated. |
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IthaGenes was last updated on 2024-11-20 13:24:07