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
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
Created on 2010-06-16 16:13:15,
Last reviewed on 2022-12-06 13:02:11 (Show full history)
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