IthaID: 346
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α3.7;Init CD ACCATG>--CATG | HGVS Name: | NG_000006.1:g.[33773_33774del;34247_38050del] |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: AC deletion at the -2 and -3 positions preceding the initiation codon (ATG) found on a chromosome that carries the -3.7 kb deletion (-α3.7). HGVS name reports deletion breakpoints in -α3.7 (type I) [IthaID: 300] and should be used with caution.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α+/α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33773 or 34247 |
| Size: | 2 bp or 3.804 kb |
| Located at: | α2, α3.7 hybrid |
Other details
| Type of Mutation: | Combination |
|---|---|
| Ethnic Origin: | North African, Mediterranean |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| 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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Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Publications / Origin
- Morlé F, Lopez B, Henni T, Godet J, alpha-Thalassaemia associated with the deletion of two nucleotides at position -2 and -3 preceding the AUG codon., The EMBO journal, 4(5), 1245-50, 1985 PubMed
- Morle F, Starck J, Godet J, Alpha-thalassemia due to the deletion of nucleotides -2 and -3 preceding the AUG initiation codon affects translation efficiency both in vitro and in vivo., Nucleic Acids Res. , 14(8), 3279-92, 1986 PubMed
- Viprakasit V, Ayyub H, May A, Dinucleotide deletion in -alpha3.7 allele causes a severe form of alpha+ thalassaemia., Eur. J. Haematol. , 71(2), 133-6, 2003 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2024-03-08 10:55:36 (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 | 2014-05-06 12:32:29 | The IthaGenes Curation Team | Reviewed. Locus location corrected. |
| 4 | 2014-06-04 10:38:54 | The IthaGenes Curation Team | Reviewed. HbVar link added. |
| 5 | 2020-10-02 10:43:49 | The IthaGenes Curation Team | Reviewed. Comment added. Location corrected. |
| 6 | 2024-03-06 14:50:15 | The IthaGenes Curation Team | Reviewed. Common and HGVS name corrected; Comment and Location added |
| 7 | 2024-03-06 15:02:43 | The IthaGenes Curation Team | Reviewed. |
| 8 | 2024-03-08 10:55:36 | The IthaGenes Curation Team | Reviewed. Comment updated |
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IthaGenes was last updated on 2024-04-18 10:10:45