IthaID: 4026
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 46 GGG>CGG [Gly>Arg], IVS II-456 A>G | HGVS Name: | HBD:c.[139G>C;316-443A>G] |
| Hb Name: | Hb A2-Malay | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GGACCCAGAGGTTCTTTGAGTCCTTT [G>C] GGGATCTGTCCTCTCCTGATGCTGTT (Strand: -)
Comments: CD 46 G>C nucleotide substitution is found together with IVS II-456 A>G in six Malay individuals. One individual also carried Asian-Indian Inv/Del Gγ(Aγδβ)0 [IthaID: 1519]. It is hypothesized that CD 46 G>C and IVS II-456 A>G occur on the same allele since this individual carries a deletion on the other allele.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δ-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63449 or 64081 |
| Size: | 1 bp or 1 bp |
| Located at: | δ |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Malay |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Syahzuwan, Hassan | 2023-05-25 | First report. |
Created on 2023-05-26 10:54:26,
Last reviewed on 2023-05-26 11:03:46 (Show full history)
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