IthaID: 532

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 44 CCG>CGG [Pro>Arg] HGVS Name: HBA1:c.134C>G | HBA2:c.134C>G
Hb Name: Hb Kawachi Protein Info: α2 or α1 44(CE2) Pro>Arg

Context nucleotide sequence:

Protein sequence:

Also known as:


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34026 or 37830
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: Missense codons (Protein Structure)
Ethnic Origin: Japanese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Harano T, Harano K, Ueda S, Shibata S, Imai K, Ohba Y, Shinohara T, Horio S, Nishioka K, Shirotani H, Hemoglobin Kawachi [alpha 44 (CE2) Pro leads to Arg]: a new hemoglobin variant of high oxygen affinity with amino acid substitution at alpha 1 beta 2 contact., Hemoglobin , 6(1), 43-9, 1982
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-19 13:20:12 (Show full history)

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