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:
GAGCCACGGCTCTGCCCAGGTTAAG [G/T] GCCACGGCAAGAAGGTGGCCGACGC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKCHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| 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
Publications / Origin
- 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
Created on 2022-09-05 15:18:09,
Last reviewed on (Show full history)
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