IthaID: 745
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 127 AAG>AAT or AAC [Lys>Asn] | HGVS Name: | HBA1:c.384G>C | HBA1:c.384G>T | HBA2:c.384G>C | HBA2:c.384G>T |
| Hb Name: | Hb Jackson | Protein Info: | α2 or α1 127(H10) Lys>Asn |
Context nucleotide sequence:
CTGCGGTGCACGCCTCCCTGGACAA [C/G/T] TTCCTGGCTTCTGTGAGCACCGTGC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDNFLASVSTVLTSKYR
Also known as:
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: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34418 or 38229 |
| Size: | 1 bp or 1 bp |
| Located at: | α1 or α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | African |
| Molecular mechanism: | N/A |
| 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
- Moo-Penn WF, Bechtel KC, Johnson MH, Jue DL, Holland S, Huff C, Schmidt RM, Hemoglobin Jackson, alpha 127 (H10) Lys replaced by Asn., Am. J. Clin. Pathol. , 66(2), 453-6, 1976 PubMed
- Lam H, Webber BB, Wilson JB, Huisman TH, Identification of the alpha chain abnormal hemoglobin Jackson (alpha 127 Lys leads to Asn) after isolation of the core peptide by high-performance liquid chromatography., J. Chromatogr. , 269(2), 119-22, 1983 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-15 09:52:38 (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 | 2014-04-15 09:52:38 | The IthaGenes Curation Team | Reviewed. Added common name, references and ClinVar link. |
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IthaGenes was last updated on 2024-11-20 13:24:07