IthaID: 2573
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 67 GTG>ATG [Val>Met] | HGVS Name: | HBD:c.202G>A |
| Hb Name: | Hb A2-Deventer | Protein Info: | δ 67(E13) Val>Met |
Context nucleotide sequence:
GAAGGCTCATGGCAAGAAG [G>A] TGCTAGGTGCCTTTAGTGATGGCCTGGCTCA (Strand: -)
Also known as:
Comments: It causes a reduced HbA2 (1.5%) in a heterozygote and is therefore considered as a δ-thalassaemic effect.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | δ-thalassaemia, δ-chain variant |
| Allele Phenotype: | δ+ |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63512 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | L. Harteveld, Cornelis | 2016-03-02 | First report. |
Created on 2016-05-06 13:53:15,
Last reviewed on (Show full history)
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