IthaID: 3249

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 135 GCT>GC- HGVS Name: HBB:c.408delT
Hb Name: Hb Urumqi Protein Info: N/A

Context nucleotide sequence:

Also known as:

Comments: Discovered by capture-based NGS of 22260 samples (South China origin) as a de novo mutation with an HbF-related SNP (rs368698783). Reported in a Chinese girl with splenomegaly, jaundice and macrocytic, haemolytic anaemia. The deletion results in a frameshift in the β-globin sequence, thus extending the read to the next TAA stop signal located at position 158. This leads to a completely different C-terminal amino acid sequence and presumed synthesis of an abnormal β-globin chain that is 157 residues long. cDNA sequencing from total RNA revealed that mutant β-globin chain was transcribed into mRNA at a relatively low quantity. However, no abnormal Hb was detected by CE and HPLC, possibly because abnormal β-globin chains precipitate early in the erythroid precursors. Normal isopropanol stability test.

External Links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Hyperunstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71982
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Pu J, Zhang L, Wei X, Xu X, Clinical Genotyping by Next Generation Sequencing Reveals a Novel, De Novo β-Globin Gene Mutation Causing Hemolytic Anemia in a Chinese Individual., Hemoglobin, 42(3), 184-188, 2018 PubMed
Created on 2017-08-21 12:55:48, Last reviewed on 2019-11-22 08:48:53 (Show full history)

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