IthaID: 3817



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 4 (-T) HGVS Name: HBB:c.14delC
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
ACAGACACCATGGTGCATCTGA [C/-] TCCTGAGGAGAAGTCTGCCGTT (Strand: -)

Protein sequence:
MVHLILRRSLPLLPCGAGX

Also known as:

Comments: Found in a 31-year old male and his mother presented with decreased levels of MCV, MCH and increased level of HbA2.Τhe C deletion, causing a frameshift that introduces a premature stop codon fourteen amino acids further down the new reading frame.

External Links

No available links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70608
Size: 1 bp
Located at: β
Specific Location: Exon 1

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

Sequence Viewer

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Publications / Origin

  1. Chen J, Lin S, Gan J, Xin X, Huang J, A novel β-thalassemia variant at HBB:c.14delC (Codon 4, -C) identified via next-generation sequencing., Hematology, 25(1), 400-404, 2020 PubMed
Created on 2021-07-12 13:01:52, Last reviewed on 2021-07-12 13:03:00 (Show full history)

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