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:
AACAGACACCATGGTGCATCTGACT [C/G] CTGAGGAGAAGTCTGCCGTTACTGC (Strand: -)
Protein sequence:
MVHLTAEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| 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
Publications / Origin
- 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
- 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
- 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