IthaID: 3023

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 35 TAC>TAG HGVS Name: HBB:c.108C>G
Hb Name: N/A Protein Info: N/A

Protein sequence:

Also known as:

Comments: The mutation creates a premature stop codon, and thus causes formation of a non-functional Hb.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70832
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Nonsense codon (Translation)
Ethnic Origin: Han Chinese
Molecular mechanism: Altered α1β1 interface
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Wang W, Wang Q, Tao T, Sun A, Ruan C, Chen S, Identification of Two Novel β-Thalassemia Mutations (HBB: c.335-346del and HBB: c.108 C > G) in Han Chinese., Hemoglobin , 39(5), 359-61, 2015
Created on 2016-08-25 17:16:29, Last reviewed on 2016-08-25 17:28:17 (Show full history)

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