IthaID: 474
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 19 GCG>GAY [Ala>Asp] | HGVS Name: | HBA2:c.59_60delinsAY^HBA1:c.59_60delinsAY |
| Hb Name: | Hb J-Kurosh | Protein Info: | α2 or α1 19(AB1) Ala>Asp |
Context nucleotide sequence:
GCCGCCTGGGGTAAGGTCGGCG [CG>AY] CACGCTGGCGAGTATGGTGCG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGDHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Reported as an α19 (AB) Ala>Αsp change by protein mapping and amino acid analysis in a clinically symptom-free Iranian. The Hb variant moves to the position of Hb J by cellulose acetate and starch-gel electrophoresis. Residue α19 (AB) is in the external and non-helical segment of the α-chain and is not involved in the haem contacts or interchain contacts. Sequence varitiations at this residue is therefore not expected to be associated with haemoglobin instability or to affect haem binding or oxygen dissociation.
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: | 33834 or 37638 |
| Size: | 2 bp or 2 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
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
- Landin B, Berglund S, Wallman K, Two different mutations in codon 97 of the beta-globin gene cause Hb Malmö in Sweden., American journal of hematology, 51(1), 32-6, 1996