IthaID: 3789
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 127 AAG>CAG [Lys>Gln] | HGVS Name: | HBA1:c.382A>C |
| Hb Name: | Hb Waikato | Protein Info: | α1 127(H10) Lys>Gln |
Context nucleotide sequence:
CCTGCGGTGCACGCCTCCCTGGAC [A/C] AGTTCCTGGCTTCTGTGAGCACCG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDQFLASVSTVLTSKYR
Also known as:
Comments: Found in an adolescent Syrian male presented with cyanosis and decreased level of reduced p50 (20.8 mmHg). Capillary electrophoresis shown a more negatively charged abnormal peak of 12.8%.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | Increased Oxygen Affinity |
| 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: | Syrian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Jordyn A Moore, Beverley M Pullon, Darrell Wang , Stephen O Brennan , Hb Waikato [α127(H10)Lys→Gln; HBA1: c.382A>C]: A Novel High Oxygen Affinity Variant, Hemoglobin, 2021
Created on 2021-05-17 09:46:44,
Last reviewed on (Show full history)
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