IthaID: 901
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 28 CTG>CCG [Leu>Pro] | HGVS Name: | HBB:c.86T>C |
| Hb Name: | Hb Genova | Protein Info: | β 28(B10) Leu>Pro |
Context nucleotide sequence:
GTGGATGAAGTTGGTGGTGAGGCCC [T>C] GGGCAGGTTGGTATCAAGGTTACAA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEAPGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: β28 Leu>Pro change, although causing a profound distortion of the B helix, is stable enough to allow the formation of viable tetramers (Hb Genova), which then fall apart in the peripheral circulation causing a haemolytic anaemia [PMID: 1581206]
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: | Unstable |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70680 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Cuban | East Indian | European | Japanese | Kenyan | Libyan |
| Molecular mechanism: | Altered secondary structure |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Sansone G, Carrell RW, Lehmann H, Haemoglobin Genova: beta-28 (B10) leucine replaced by proline., Nature, 214(5091), 877-9, 1967
- Thein SL, Dominant beta thalassaemia: molecular basis and pathophysiology., Br J Haematol, 80(3), 273-7, 1992
Created on 2010-06-16 16:13:16,
Last reviewed on 2022-11-30 12:38:37 (Show full history)
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