IthaID: 2545

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 95 AAG>CAG [Lys>Gln] HGVS Name: HBB:c.286A>C
Hb Name: Hb J-Valencia Protein Info: β 95(FG2) Lys>Gln

Context nucleotide sequence:

Also known as:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71010
Size: 1 bp
Located at: β
Specific Location: Exon 2


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: N/A
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, Guinean, Spanish
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Clegg JB, Naughton MA, Weatherall DJ, An improved method for the characterization of human haemoglobin mutants: identification of alpha-2-beta-2-95GLU, haemoglobin N (Baltimore)., Nature, 207(5000), 945-7, 1965 PubMed
Created on 2015-01-08 17:50:27, Last reviewed on (Show full history)

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