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 |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GAGCCACGGCTCTGCCCAGGTTAAG [G/T] GCCACGGCAAGAAGGTGGCCGACGC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKCHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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.
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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