IthaID: 2304
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 102 AGC>AAC (Ser>Asn) | HGVS Name: | HBA2:c.308G>A |
| Hb Name: | Hb Enschede | Protein Info: | α2 102 Ser>Asn |
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLNHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Found in a non-anaemic adult male originating from Lebanon with normal haematological parameters. In Hb Enschede, a substitution of one uncharged polar amino acid by another results in normal expression (24.0%).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | Silent Hb |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34342 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Lebanese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| 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
- van Zwieten R, Veldthuis M, Delzenne B, Berghuis J, Groen J, Ait Ichou F, Clifford E, Harteveld CL, Stroobants AK, Hemoglobin Analyses in The Netherlands Reveal More Than 80 Different Variants Including Six Novel Ones., Hemoglobin , 2013 PubMed
Created on 2014-01-08 16:59:48,
Last reviewed on 2020-04-10 20:23:02 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-01-08 16:59:48 | The IthaGenes Curation Team | Created |
| 2 | 2014-01-08 16:59:48 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2016-08-23 12:09:52 | The IthaGenes Curation Team | Reviewed. Update of mutation comment section. HbVar ID added. |
| 4 | 2016-08-24 14:50:57 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2020-04-10 20:23:02 | The IthaGenes Curation Team | Reviewed. Protein name corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07