IthaID: 2195


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 125-127 (-CAGTGC) HGVS Name: HBB:c.377_382delCAGTGC
Hb Name: N/A Protein Info: β 125(H3) - 126(H4) Pro-Val->0

Context nucleotide sequence:
TTTGGCAAAGAATTCACCCCAC [-/CAGTGC] AGGCTGCCTATCAGAAAGTGGTGG (Strand: -)

Also known as:

Comments: Results in a shortened β-globin chain with a stop codon at codon 144 (TAA). Reported in literature as HBB: c.376_381delCCAGTG, which does not follow the HGVS Sequence Variant Nomeclature recommendations.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71951
Size: 6 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: British
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016
Created on 2013-09-30 17:29:54, Last reviewed on 2019-11-07 14:24:58 (Show full history)

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