IthaID: 3962

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 57 GGC>TGC [Gly>Cys] HGVS Name: HBA1:c.172G>T
Hb Name: Hb Kirikiriroa Protein Info: α1 57(E6) Gly>Cys

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in an adolescent male and a pregnant female of New Zealand European descent. Both cases had normal complete blood counts and isopropanol stability testing provided evidence the variant was unstable.

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: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37868
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: European
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Moore JA, Pullon BM, Wang D, Monaghan J, Moore H, Hb Kirikiriroa [α57(E6)Gly→Cys; : c.172G>T]: A Novel Unstable α-Globin Variant with Oxidized Derivatives Interfering with Hb A., Hemoglobin, 2022 PubMed
Created on 2022-09-05 15:18:09, Last reviewed on (Show full history)

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