IthaID: 901

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 28 CTG>CCG [Leu>Pro] HGVS Name: HBB:c.86T>C
Hb Name: Hb Genova Protein Info: β 28(B10) Leu>Pro

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: β28 Leu>Pro change, although causing a profound distortion of the B helix, is stable enough to allow the formation of viable tetramers (Hb Genova), which then fall apart in the peripheral circulation causing a haemolytic anaemia [PMID: 1581206]

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: Increased Oxygen Affinity
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70680
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Cuban | East Indian | European | Japanese | Kenyan | Libyan
Molecular mechanism: Altered secondary structure
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Sansone G, Carrell RW, Lehmann H, Haemoglobin Genova: beta-28 (B10) leucine replaced by proline., Nature, 214(5091), 877-9, 1967 PubMed
  2. Thein SL, Dominant beta thalassaemia: molecular basis and pathophysiology., Br J Haematol, 80(3), 273-7, 1992 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2022-11-30 12:38:37 (Show full history)

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