IthaID: 646

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 87 CAC>AAC [His>Asn] HGVS Name: HBA1:c.262C>A | HBA2:c.262C>A
Hb Name: Hb Auckland Protein Info: α2 or α1 87(F8) His>Asn

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in a 27-year-old female presented with low oxygen saturation (84 %) and mild hemolytic anaemia. The primary effect of the substitution is to produce molecular instability and heme loss.

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34154 or 37958
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: New Zealand
Molecular mechanism: Altered heme pocket
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Brennan SO, Matthews JR, Hb Auckland [alpha 87(F8) His-->Asn]: a new mutation of the proximal histidine identified by electrospray mass spectrometry., Hemoglobin , 21(5), 393-403, 1997 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2021-03-11 15:35:03 (Show full history)

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