IthaID: 346
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
---|---|---|---|
Common Name: | Init CD ACCATG>--CATG | HGVS Name: | HBA2:c.-3delAC |
Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Found in the context of a −α3.7 thalassemia chromosome.
External Links
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
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Hemoglobinopathy Subgroup: | α-thalassaemia |
Allele Phenotype: | α+/α0 |
Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
Chromosome: | 16 |
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Locus: | NG_000006.1 |
Locus Location: | N/A |
Size: | 2 bp |
Located at: | α3.7 hybrid |
Specific Location: | N/A |
Other details
Type of Mutation: | Point-Mutation(Deletion) |
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Effect on Gene/Protein Function: | Initiation codon (Translation) |
Ethnic Origin: | North African, Mediterranean |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
Sequence Viewer
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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 2020-10-02 10:43:49 (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. |
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IthaGenes was last updated on 2022-05-16 10:06:11