IthaID: 4102
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 20 CAC>CAG [His>Gln] | HGVS Name: | HBA1:c.63C>G |
| Hb Name: | Hb Ormylia | Protein Info: | α1 20(B1) His>Gln |
Context nucleotide sequence:
CCGCCTGGGGTAAGGTCGGCGCGCA [C/G] GCTGGCGAGTATGGTGCGGAGGCCC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAQAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Hb Ormylia is a stable variant eluted in the P3 window in HPLC. Found in 11 cases, from Northern Greece, with normal clinical picture.
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: | 37642 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Greek |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Vousvouki M, Delaki EE, Boutou E, Yfanti E, Mantzou G, Karipidou C, Vyzantiadis A, Efstathiou A, Dimopoulou M, Vlachaki E, Theodoridou S, A New α1-Globin Variant, Hb Ormylia [:c.63C > G; p.His21Gln]. Report of Eleven Cases in Northern Greece., Hemoglobin, 48(2), 133-137, 2024
Created on 2024-06-14 13:09:57,
Last reviewed on 2024-06-14 13:11:29 (Show full history)
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