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
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
Created on 2019-04-08 10:51:15,
Last reviewed on 2019-05-09 13:25:16 (Show full history)
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