IthaID: 586
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 64 GAC>TAC [Asp>Tyr] | HGVS Name: | HBA1:c.193G>T | HBA2:c.193G>T |
| Hb Name: | Hb Persepolis | Protein Info: | α2 or α1 64(E13) Asp>Tyr |
Context nucleotide sequence:
TAAGGGCCACGGCAAGAAGGTGGCC [A/G/T] ACGCGCTGACCAACGCCGTGGCGCA (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVAYALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | 34085 or 37889 |
| 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: | N/A |
| Ethnic Origin: | Indian Sikh |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
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
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-04-09 18:21:10 (Show full history)
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