IthaID: 647

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 87 CAC>GAC [His>Asp] HGVS Name: HBA1:c.262C>G
Hb Name: Hb Bonn Protein Info: α1 87(F8) His>Asp

Context nucleotide sequence:

Protein sequence:

Also known as:

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: Decreased Oxygen Affinity
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37958
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: N/A
Molecular mechanism: Altered heme pocket
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Zur B, Hornung A, Breuer J, Doll U, Bernhardt C, Ludwig M, Stoffel-Wagner B, A novel hemoglobin, Bonn, causes falsely decreased oxygen saturation measurements in pulse oximetry., Clin. Chem. , 54(3), 594-6, 2008
Created on 2010-06-16 16:13:16, Last reviewed on 2014-01-09 12:56:44 (Show full history)

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