IthaID: 1122

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 96 CTG>GTG HGVS Name: HBB:c.289C>G
Hb Name: Hb Regina Protein Info: β 96(FG3) Leu>Val

Context nucleotide sequence:

Protein sequence:

Also known as:


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71013
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Scandinavian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Devaraj R, Wilson JB, Huisman TH, Hb Regina or alpha 2 beta 2 96(FG3)Leu----Val: a high oxygen affinity variant discovered by cation-exchange HPLC., American journal of hematology, 19(2), 195-200, 1985 PubMed
  2. Mallik N, Jamwal M, Sharma R, Singh N, Sharma P, Bansal D, Trehan A, Chhabra S, Das R, Ultra-rare Hb Regina (:c.289C>G) with coinherited β-thalassaemia trait: solving the puzzle for extreme erythrocytosis., J Clin Pathol, 2022 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2022-02-15 13:33:19 (Show full history)

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