IthaID: 2333
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 57 AAC>AGC [Asn>Ser] | HGVS Name: | HBB:c.173A>G |
| Hb Name: | Hb Cork | Protein Info: | β 57(E1) Asn>Ser |
Context nucleotide sequence:
TCCACTCCTGATGCTGTTATGGGCA [A/C/G] CCCTAAGGTGAAGGCTCATGGCAAG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGSPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Associated with familial polycythemia.
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: | 70897 |
| 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: | Irish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
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
- Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016 PubMed
Created on 2014-01-16 08:55:06,
Last reviewed on 2016-08-26 14:27:10 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-01-16 08:55:06 | The IthaGenes Curation Team | Created |
| 2 | 2014-01-16 08:55:06 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-17 11:26:43 | The IthaGenes Curation Team | Reviewed. Corrected common name. |
| 4 | 2016-08-26 14:24:07 | The IthaGenes Curation Team | Reviewed. Hb name, origin and reference added. |
| 5 | 2016-08-26 14:27:10 | The IthaGenes Curation Team | Reviewed. Update of comment section. |
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IthaGenes was last updated on 2024-11-20 13:24:07