IthaID: 2511
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α3.7;CD 50 CAC>CAG [His>Gln] | HGVS Name: | NG_000006.1:g.34247_38050del;34045C>G |
| Hb Name: | Hb Frankfurt | Protein Info: | N/A |
Also known as: -α3.7kb Frankfurt
Comments: The missense mutation CAC>CAG [His>Gln] at codon 50 is found in the context of a -α3.7 thalassaemia chromosome.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34045 |
| 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: | Portuguese |
| 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
- Préhu C, Francina A, Behnken LJ, Promé D, Galactéros F, Wajcman H, An identical mutation carried by different genes: Hb Frankfurt [alpha50(CE8)His->Gln]., Haematologica , 88(5), ECR19, 2003 PubMed
- Moradkhani K, Préhu C, Old J, Henderson S, Balamitsa V, Luo HY, Poon MC, Chui DH, Wajcman H, Patrinos GP, Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants., Ann. Hematol. , 88(6), 535-43, 2009 PubMed
Created on 2014-06-05 12:55:31,
Last reviewed on 2023-05-02 09:59:13 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-06-05 12:55:31 | The IthaGenes Curation Team | Created |
| 2 | 2020-02-05 11:10:50 | The IthaGenes Curation Team | Reviewed. Comment added, Origin changed |
| 3 | 2020-10-02 10:33:56 | The IthaGenes Curation Team | Reviewed. Location edits. |
| 4 | 2023-05-02 09:58:53 | The IthaGenes Curation Team | Reviewed. HGVS name added |
| 5 | 2023-05-02 09:59:13 | The IthaGenes Curation Team | Reviewed. Reference added |
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IthaGenes was last updated on 2024-10-29 15:59:14