IthaID: 901

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 28 CTG>CCG 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:


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70680
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: Increased Oxygen Affinity
Associated Phenotypes: N/A

Other details

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

Publications / Origin

  1. Sansone G, Carrell RW, Lehmann H, Haemoglobin Genova: beta-28 (B10) leucine replaced by proline., Nature, 214(5091), 877-9, 1967
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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