IthaID: 76

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 16 GGC>GGT [Gly>Gly] HGVS Name: HBB:c.51C>T
Hb Name: N/A Protein Info: β 16 Gly>Gly

Also known as:

Comments: A synonymous substitution consistently found with altered red cell indices in heterozygous individuals in various families in the absence of other HBB gene variants. Evidence that this variant is not silent. In silico analysis predicted the production of aberrant mRNA splicing as a consequence of a new spice donor (GT) site creation. Functional analysis showed the reduction of β-globin mRNA levels in heterozygous individuals, while further analysis with HBB mini gene constructs confirmed the occurrence of aberrant splicing in the presence of c.51C>T.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:Unclear
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70645
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: Indian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Nadkarni A, Gorakshakar A, Surve R, Sawant P, Phanasgaonkar S, Nair S, Ghosh K, Colah RB, Hematological and molecular analysis of novel and rare beta-thalassemia mutations in the Indian population., Hemoglobin, 33(1), 59-65, 2009 PubMed
  2. Hunt RC, Kimchi-Sarfaty C, A synonymous variant is unmasked in thalassaemia., Br J Haematol, 2023 PubMed
  3. Gorivale M, Sawant P, Kargutkar N, Hariharan P, Thaker P, Chiddarwar A, Nadkarni A, When a synonymous mutation breaks the silence in a thalassaemia patient., Br J Haematol, 2023 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2023-11-22 13:10:14 (Show full history)

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