
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
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 10:50:44,
Last reviewed on 2023-05-02 09:41:01 (Show full history)
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