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 |
| Also known as: | Hb Zurich |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
ATGGGCAACCCTAAGGTGAAGGCTC [A/C/G] TGGCAAGAAAGTGCTCGGTGCCTTT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKARGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| 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
Publications / Origin
- 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
- 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
Created on 2010-06-16 16:13:16,
Last reviewed on 2019-07-29 14:50:23 (Show full history)
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