IthaID: 3723
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 132 GTG>GCG [Val>Ala] | HGVS Name: | HBA1:c.398T>C |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
TCCCTGGACAAGTTCCTGGCTTCTG [T/C] GAGCACCGTGCTGACCTCCAAATAC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASASTVLTSKYR
Also known as:
Comments: Reported in two related Malay individuals. Both were asymptomatic with Hb level range 11-15 g/dL, MCV 62-76 fL, MCH 19-25 pg and HbA2 of 2.2-2.7%. Based on mutation taster, this is prediction disease causing.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | 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: | 38243 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Malay |
| 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
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Mohd Yasin, Norafiza | 2020-11-24 | First report. |
Created on 2021-02-02 17:12:54,
Last reviewed on 2021-02-08 10:05:50 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2021-02-02 17:12:54 | The IthaGenes Curation Team | Created |
| 2 | 2021-02-08 10:05:50 | The IthaGenes Curation Team | Reviewed. Link added. |
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IthaGenes was last updated on 2024-04-18 10:10:45