IthaID: 806

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 5 CCT>GCT [Pro>Ala] HGVS Name: HBB:c.16C>G
Hb Name: Hb Gorwihl Protein Info: β 5(A2) Pro>Ala

Context nucleotide sequence:

Protein sequence:

Also known as: Hb Hinchingbrooke

Comments: Hb Görwihl first described in a 74-year-old German male with an exceptionally low HbA1c value. Most recently, found in a 58-year-old Caucasian male with pathological values of OGTT but undetectable HbA1c levels. Hb Görwihl has functional properties similar to those of normal HbA and, in a heterozygous state, is not associated with clinical symptoms or haematological abnormalities. It only demonstrates altered glycation of the chains with a consequent reduction in the value of glycated haemoglobin.

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70610
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: German, Caucasian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Bissé E, Schauber C, Zorn N, Epting T, Eigel A, Van Dorsselaer A, Wieland H, Kister J, Kiger L, Hemoglobin Görwihl [alpha2beta(2)5(A2)Pro-->Ala], an electrophoretically silent variant with impaired glycation., Clinical chemistry, 49(1), 137-43, 2003 PubMed
  2. Ito S, Nakahari T, Yamamoto D, Relationship between impaired glycation and the N-terminal structure of the Hb Görwihl [beta5(A2)Pro-->Ala] variant., Hemoglobin , 34(2), 151-6, 2010 PubMed
  3. Salvatici M, Caslini C, Alesci S, Arosio G, Meroni G, Ceriotti F, Ammirabile M, Drago L, The Application of Clinical and Molecular Diagnostic Techniques to Identify a Rare Haemoglobin Variant., Int J Mol Sci, 25(12), , 2024 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2024-07-10 12:25:32 (Show full history)

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