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:

Protein sequence:

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.

External Links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


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

Sequence Viewer

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Publications / Origin

  1. 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
  2. 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 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2023-04-28 12:10:17 (Show full history)

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