IthaID: 1122
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 96 CTG>GTG | HGVS Name: | HBB:c.289C>G |
| Hb Name: | Hb Regina | Protein Info: | β 96(FG3) Leu>Val |
Context nucleotide sequence:
ACTGAGTGAGCTGCACTGTGACAAG [C/G] TGCACGTGGATCCTGAGAACTTCAG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKVHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71013 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Scandinavian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Devaraj R, Wilson JB, Huisman TH, Hb Regina or alpha 2 beta 2 96(FG3)Leu----Val: a high oxygen affinity variant discovered by cation-exchange HPLC., American journal of hematology, 19(2), 195-200, 1985
- Mallik N, Jamwal M, Sharma R, Singh N, Sharma P, Bansal D, Trehan A, Chhabra S, Das R, Ultra-rare Hb Regina (:c.289C>G) with coinherited β-thalassaemia trait: solving the puzzle for extreme erythrocytosis., J Clin Pathol, 2022
Created on 2010-06-16 16:13:16,
Last reviewed on 2022-02-15 13:33:19 (Show full history)
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