IthaID: 886

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 24 GGT>GAT [Gly>Asp] HGVS Name: HBB:c.74G>A
Hb Name: Hb Moscva Protein Info: β 24(B6) Gly>Asp

Context nucleotide sequence:

Protein sequence:

Also known as:


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70668
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Russian, Mauritanian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Idelson LI, Didkowsky NA, Casey R, Lorkin PA, Lehmann H, New unstable haemoglobin (Hb Moscva, beta24 (B4) Gly leads to Asp) found in the USSR., Nature, 249(459), 768-70, 1974 PubMed
  2. Ghaber SM, Trabelsi N, Salem ML, Haddad F, Abba A, Darragi I, Abbes S, Hb Moscva [β24(B6)Gly→Asp (GGT>GAT), HBB: c.74G>A]: An Unstable Hemoglobin Newly Detected as a De Novo Mutation in a Mauritanian Patient., Hemoglobin , 2018 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2018-04-03 18:11:39 (Show full history)

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