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
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
Created on 2018-02-22 18:47:24,
Last reviewed on 2024-02-22 14:10:11 (Show full history)
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