IthaID: 3324
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 6 GAG>GTG [Glu>Val]; CD 139 AAT>AGT [Asn>Ser] | HGVS Name: | HBB:c.[20A>T;419A>G] |
| Hb Name: | Hb S-Wake | Protein Info: | β 6(A3) Glu>Val AND β 139(H17) Asn>Ser |
Also known as:
Comments: Hb S-Wake [β(Glu6Val-Asn139Ser)] found in trans with Hb S [β(Glu6Val)], together with homozygous α+ thalassaemia (-α3.7/-α3.7), in an individual presenting with sickle cell disease. The site of βAsn139 lies within the central cavity proximal to the 2,3-diphosphoglycerate pocket. Asparagine (Asn) possesses nonpolar uncharged side chains, while serine (Ser) exhibits polar uncharged side chains. Substituting Asn with Ser at this position is expected to yield a similar effect without altering the function or stability of the variant hemoglobin (Hb).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | Sickling |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70614 or 71993 |
| Size: | 1 bp or 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | N/A |
| Molecular mechanism: | Altered secondary structure |
| 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
- Kutlar F, Redding-Lallinger R, Meiler SE, Bakanay SM, Borders L, Kutlar A, A new sickling variant 'Hb S-Wake β[(Glu6Val-Asn139 Ser)]' found in a compound heterozygote with Hb S β(Glu6Val) coinherited with homozygous α-thalassemia-2: phenotype and molecular characteristics., Acta Haematol, 124(2), 120-4, 2010 PubMed
Created on 2018-02-22 18:47:24,
Last reviewed on 2024-02-22 14:10:11 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2018-02-22 18:47:24 | The IthaGenes Curation Team | Created |
| 2 | 2018-03-05 17:38:24 | The IthaGenes Curation Team | Reviewed. Location corrected. |
| 3 | 2019-10-10 12:10:44 | The IthaGenes Curation Team | Reviewed. Text edits |
| 4 | 2021-10-21 11:16:24 | The IthaGenes Curation Team | Reviewed. Common name corrected. |
| 5 | 2024-02-22 14:10:11 | The IthaGenes Curation Team | Reviewed. Reference added, Comment updated |
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IthaGenes was last updated on 2024-04-18 10:10:45