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:

Protein sequence:

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


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


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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. 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 PubMed
Created on 2021-05-17 09:46:44, Last reviewed on (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.