IthaID: 2436
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 107 GTG>G-G | HGVS Name: | HBA2:c.323delT |
| Hb Name: | Hb Lynwood | Protein Info: | α2 107 (-T); modified C-terminal sequence: (107)Gly-Pro-Trp-Pro-Pro-Thr-Ser-Pro-Pro-Ser- Ser-Pro-Leu-Arg-Cys-Thr-Pro-Pro-Trp-Thr- Ser-Ser-Trp-Leu-Leu-(132)COOH |
Also known as:
Comments: This Hb variant was found in conjunction with the α3.7 deletion producing a moderately severe α-thalassemia phenotype.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia, α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34357 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Sudanese |
| 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
- Finlayson J, Ghassemifar R, Holmes P, Grey D, Newbound C, Pell N, Jennens M, Macaulay C, Greenwood L, Beilby J, Hb Lynwood [α107(G14) (-T) (α2) HBA2:c.323delT)] in conjunction with the α(3.7) deletion produces a moderately severe α-thalassemia phenotype., Hemoglobin , 35(2), 142-6, 2011 PubMed
Created on 2014-05-30 20:23:14,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-05-30 20:23:14 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-11-20 13:24:07