IthaID: 440
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 5 GCC>CCC [Ala>Pro] | HGVS Name: | HBA1:c.16G>C | HBA2:c.16G>C |
| Hb Name: | Hb Karachi | Protein Info: | α2 or α1 5(A3) Ala>Pro |
Context nucleotide sequence:
AGAACCCACCATGGTGCTGTCTCCT [C/G] CCGACAAGACCAACGTCAAGGCCGC (Strand: +)
Protein sequence:
MVLSPPDKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | 33791 or 37595 |
| 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: | Pakistani |
| Molecular mechanism: | Altered secondary structure |
| 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
- Ahmad A, Naqvi S, Ehsanullah S, Zaidi ZH, Abnormal hemoglobins 11-Hb (Karachi), an alpha chain abnormality at position 5 Ala----Pro., J Pak Med Assoc , 36(8), 206-8, 1986 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2022-12-06 13:02:11 (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 15:05:39 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2022-12-06 13:02:11 | The IthaGenes Curation Team | Reviewed. Link added. |
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IthaGenes was last updated on 2024-11-20 13:24:07