IthaID: 806

Names and Sequences

Functionality: Globin gene causative mutation
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

External Links


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


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

Other details

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

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
Created on 2010-06-16 16:13:16, Last reviewed on 2014-05-14 16:39:49 (Show full history)

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