IthaID: 1108
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 92 CAC>CCC; CD 104 AGG>AGC | HGVS Name: | HBB:c.[278A>C;315G>C] |
| Hb Name: | Hb Duino | Protein Info: | β 92(F8) His>Pro AND β 104(G6) Arg>Ser |
Also known as:
Comments: Hb Duino [β92(F8)His>Pro;β104(G6)Arg>Ser] is a combination of Hb Newcastle [IthaID: 1106] and Hb Camperdown [IthaID: 1162] in the same β-globin chain. It was initially identified in an Italian patient suffering from hemolytic anemia and characterized by protein analysis. Family study demonstrated that the Hb Newcastle abnormality arose from a de novo mutation occurring on a β gene already carrying the abnormality of Hb Camperdown.
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: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71002 or 71039 |
| Size: | 1 bp or 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: | Italian |
| Molecular mechanism: | Altered heme pocket |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Wajcman H, Blouquit Y, Vasseur C, Le Querrec A, Laniece M, Melevendi C, Rasore A, Galacteros F, Two new human hemoglobin variants caused by unusual mutational events: Hb Zaïre contains a five residue repetition within the alpha-chain and Hb Duino has two residues substituted in the beta-chain., Human genetics, 89(6), 676-80, 1992
Created on 2010-06-16 16:13:16,
Last reviewed on 2023-04-28 13:45:46 (Show full history)
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