IthaID: 1318

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 146 CAC>CAA HGVS Name: HBB:c.441C>A
Hb Name: Hb Kodaira Protein Info: β 146(HC3) His>Gln

Context nucleotide sequence:

Protein sequence:

Also known as:


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 72015
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Japanese
Molecular mechanism: Mutated Bohr effect
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Harano T, Harano K, Kushida Y, Imai K, Nishinakamura R, Matsunaga T, Hb Kodaira [beta 146(HC3)His----Gln]: a new beta chain variant with an amino acid substitution at the C-terminus., Hemoglobin, 16(1), 85-91, 1992
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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