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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
- 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 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2018-01-22 18:59:19 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2018-01-22 18:59:19 | The IthaGenes Curation Team | Reviewed. Other Details section updated/corrected. Reference added. |
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IthaGenes was last updated on 2024-11-20 13:24:07