IthaID: 2501
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 50 CAC>CAG [His>Gln] | HGVS Name: | HBA1:c.153C>G |
| Hb Name: | Hb Frankfurt | Protein Info: | α1 50(CE8) His>Gln |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CCCGCACTTCGACCTGAGCCA [C>G] GGCTCTGCCCAGGTTAAGGGCCACG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSQGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Comments: The first observation of Hb Frankfurt was made during a glycated Hb measurement done in a diabetic German woman aged 85 who had no hematological features. Protein analysis showed an alpha chain slightly more hydrophobic than normal. Residue α50(CE8) is external, without special function.
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: | 37849 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | German |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
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 10:50:44,
Last reviewed on 2023-05-02 09:41:01 (Show full history)
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