IthaID: 450

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 7 AAG>GAG [Lys>Glu] HGVS Name: HBA1:c.22A>G | HBA2:c.22A>G
Hb Name: Hb Kurosaki Protein Info: α2 or α1 7(A5) Lys>Glu

Context nucleotide sequence:

Protein sequence:

Also known as:


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33797 or 37601
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 1


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: Japanese
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Harano T, Harano K, Imai K, Murakami T, Matsubara H, Hb Kurosaki [alpha 7(A5)Lys-->Glu]: a new alpha chain variant found in a Japanese woman., Hemoglobin , 19(3), 197-201, 1995 PubMed
  2. Wenning MR, Kimura EM, Jorge SB, Costa FF, Sonati MF, Molecular characterization of hemoglobins Kurosaki [alpha7 Lys-->Glu], G-Pest [alpha74 Asp-->Asn], Stanleyville-II [alpha78 Asn-->Lys] and J-Rovigo [alpha53 Ala-->Asp]., Acta Haematol. , 102(4), 203-5, 1999 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-12 16:01:22 (Show full history)

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