IthaID: 478

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 20 CAC>CGC [His>Arg] HGVS Name: HBA1:c.62A>G | HBA2:c.62A>G
Hb Name: Hb Hobart Protein Info: α2 or α1 20(B1) His>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: N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33837 or 37641
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 1

Other details

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

Publications / Origin

  1. Fleming PJ, Sumner DR, Wyatt K, Hughes WG, Melrose WD, Jupe DM, Baikie MJ, Hemoglobin Hobart or alpha 20(Bl)His----Arg: a new alpha chain hemoglobin variant., Hemoglobin , 11(3), 211-20, 1987
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-12 17:53:15 (Show full history)

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