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
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
- 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
Created on 2014-06-05 12:55:31,
Last reviewed on 2023-05-02 09:59:13 (Show full history)
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