IthaID: 3380
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 127 AAG>GAG [Lys>Glu] | HGVS Name: | HBA1:c.382A>G |
| Hb Name: | Hb Shantou | Protein Info: | α1 127(H10) Lys>Glu |
Context nucleotide sequence:
CCCCTGCGGTGCACGCCTCCCTGGAC [A>G] AGTTCCTGGCTTCTGTGAGCACCG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDEFLASVSTVLTSKYR
Also known as:
Comments: Found as a heterozygote. This mutation does not seem to affect the stability nor the function of the variant. Its chromatographic profile suggests a probable interference during the monitoring of glycated haemoglobin (HbA1c).
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: | 38227 |
| 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: | Chinese |
| 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
- Xu A, Lei J, Li J, Chen W, Zhou Y, Zheng R, Ji L, Falsely high HbA value due to a novel α1-globin gene mutation: Hb shantou [α127(H10)Lys > Glu; HBA1: c.382 A > G]., Scand. J. Clin. Lab. Invest., 78(0), 621-625, 2018 PubMed
Created on 2019-04-08 10:51:15,
Last reviewed on 2019-05-09 13:25:16 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-04-08 10:51:15 | The IthaGenes Curation Team | Created |
| 2 | 2019-04-08 14:59:02 | The IthaGenes Curation Team | Reviewed. Comment and Reference added. |
| 3 | 2019-05-09 13:25:16 | The IthaGenes Curation Team | Reviewed. Reference added. |
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IthaGenes was last updated on 2024-11-20 13:24:07