IthaID: 410
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α3.7;CD 125 CTG>CAG | HGVS Name: | N/A |
| Hb Name: | Hb Weste-Einde | Protein Info: | N/A |
Also known as:
Comments: The missense mutation HBA2:c.377T>A found in the context of a −α3.7 thalassaemia chromosome.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 1 bp |
| Located at: | α3.7 hybrid |
| Specific Location: | N/A |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Kurdish-Jewish |
| 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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Publications / Origin
- Oron-Karni V, Filon D, Shifrin Y, Fried E, Pogrebijsky G, Oppenheim A, Rund D, Diversity of alpha-globin mutations and clinical presentation of alpha-thalassemia in Israel., American journal of hematology, 65(3), 196-203, 2000 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-11-04 11:40:02 (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 | 2020-10-02 10:35:37 | The IthaGenes Curation Team | Reviewed. Comment added. Location corrected. |
| 4 | 2021-11-04 11:40:02 | The IthaGenes Curation Team | Reviewed. Common name corrected. HGVS name deleted. |
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IthaGenes was last updated on 2023-03-22 16:46:31