IthaID: 1011

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 63 CAT>CGT [His>Arg] HGVS Name: HBB:c.191A>G
Hb Name: Hb Zürich Protein Info: β 63(E7) His>Arg

Context nucleotide sequence:

Protein sequence:

Also known as: Hb Zurich

Comments: Detected in a compound heterozygous state with a clinical phenotype resembling that of beta thalassaemia intermedia. Carriers have a mild course of disease, presenting with acute haemolysis after exposure to an oxidant agent. Unstable variant due to replacement of the distal histidine of the beta-chain by an arginine residue.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70915
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: American, Japanese, Swiss, Chinese
Molecular mechanism: Altered heme pocket
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Murata K, Yamamoto S, Hirano Y, Omine M, Tsuchiya J, Ohba Y, Miyaji T, First Japanese family with the unstable hemoglobin Zürich [beta 63(e7) His leads to Arg], Japanese journal of medicine, 21(1), 40-5, 1982 PubMed
  2. Yan CLS, Chan NCN, Lam GKS, Ng KY, Cheng CK, Li CK, A new form of thalassemia intermedia: Compound heterozygous beta thalassemia and hemoglobin Zurich., Pediatr Blood Cancer, 66(6), e27720, 2019 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2019-07-29 14:50:23 (Show full history)

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