IthaID: 577

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 60 AAG>GAG [Lys>Glu] HGVS Name: HBA1:c.181A>G | HBA2:c.181A>G
Hb Name: Hb Dagestan Protein Info: α2 or α1 60(E9) Lys>Glu

Context nucleotide sequence:

Protein sequence:

Also known as:

External Links


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34073 or 37877
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2


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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Dagestan
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Spivak VA, Molchanova TP, Ermakov NV, Tokarev YuN , Martinez G, Szelenyi J, Horanyi M, Foldi J, Hollan S, Kazieva H, Shamov IA, A new hemoglobin variant: Hb Dagestan alpha 60(E9) Lys leads to Glu., Hemoglobin , 5(2), 133-8, 1981 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-04-09 18:03:11 (Show full history)

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