IthaID: 474
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 19 (GCC>GAC) [Ala>Asp] | HGVS Name: | HBA2:c.59C>A | HBA1:c.59C>A |
| Hb Name: | Hb J-Kurosh | Protein Info: | α2 or α1 19(AB1) Ala>Asp |
Context nucleotide sequence:
GCCGCCTGGGGTAAGGTCGGCG [C/A] GCACGCTGGCGAGTATGGTGCG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGDHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Codon 19 is presumed to be GCG but may be GCC in some populations; a one base change of GCC can result in GAC and explain the Ala->Asp replacement
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: | 33834 or 37638 |
| Size: | 1 bp or 1 bp |
| Located at: | α1 or α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Iranian |
| 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
- Rahbar S, Ala F, Akhavan E, Nowzari G, Shoa'i I, Zamanianpoor MH, Two new haemoglobins: haemoglobin Perspolis (alpha 64 (E13) Asp leads to Tyr) and haemoglobin J-Kurosh (alpha 19 (AB) Ala leads to Asp)., Biochim. Biophys. Acta , 427(1), 119-25, 1976 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-05-26 11:27:11 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2014-03-12 17:38:12 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2021-05-26 11:27:11 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. |
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IthaGenes was last updated on 2023-03-22 16:46:31