IthaID: 1107
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 92 CAC>CGC | HGVS Name: | HBB:c.278A>G |
| Hb Name: | Hb Mozhaisk | Protein Info: | β 92(F8) His>Arg |
Context nucleotide sequence:
ACCTTTGCCACACTGAGTGAGCTGC [A/C/G] CTGTGACAAGCTGCACGTGGATCCT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELRCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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: | Unstable |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71002 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Peruvian/Italian, Russian |
| Molecular mechanism: | Altered heme pocket |
| Inheritance: | Dominant |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Spivak VA, Molchanova TP, Postnikov YuV , Aseeva EA, Lutsenko IN, Tokarev YuN , A new abnormal hemoglobin: Hb Mozhaisk beta 92(F8)His leads to Arg., Hemoglobin, 6(2), 169-81, 1982
- Benzoni E, Giannone V, Michetti L, Seia M, Cavalleri L, Curcio C, Hb Mozhaisk [β92(F8)His→Arg; HBB: c.278A>G] as a De Novo Mutation in a Child of Mixed Ethnic Origins., Hemoglobin , 41(4), 314-316, 2017
Created on 2010-06-16 16:13:16,
Last reviewed on 2018-01-22 18:59:19 (Show full history)
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