IthaID: 646
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 87 CAC>AAC [His>Asn] | HGVS Name: | HBA1:c.262C>A | HBA2:c.262C>A |
| Hb Name: | Hb Auckland | Protein Info: | α2 or α1 87(F8) His>Asn |
Context nucleotide sequence:
CGCGCTGTCCGCCCTGAGCGACCTG [C/A] ACGCGCACAAGCTTCGGGTGGACCC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLNAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Found in a 27-year-old female presented with low oxygen saturation (84 %) and mild hemolytic anaemia. The primary effect of the substitution is to produce molecular instability and heme loss.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 34154 or 37958 |
| Size: | 1 bp or 1 bp |
| Located at: | α1 or α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | New Zealand |
| Molecular mechanism: | Altered heme pocket |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Brennan SO, Matthews JR, Hb Auckland [alpha 87(F8) His-->Asn]: a new mutation of the proximal histidine identified by electrospray mass spectrometry., Hemoglobin , 21(5), 393-403, 1997 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2021-03-11 15:35:03 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-14 09:25:32 | The IthaGenes Curation Team | Reviewed. Added reference, common name and allele pheotype. |
| 4 | 2015-12-03 14:45:45 | The IthaGenes Curation Team | Reviewed. Phenotype updated. |
| 5 | 2021-03-11 15:35:03 | The IthaGenes Curation Team | Reviewed. Allele phenotype corrected. Comment added. |
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IthaGenes was last updated on 2024-11-20 13:24:07