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%.

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

Sequence Viewer

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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)

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