IthaID: 250



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 126 (-T) >156aa HGVS Name: HBB:c.380delT
Hb Name: Hb Vercelli Protein Info: β 126 (-T); modified C-terminal sequence: (126)Gly-Arg-Leu-Pro-Ile-Arg-Lys-Trp-Trp-Leu- Val-Trp-Leu-Met-Pro-Trp-Pro-Thr-Ser-Ile- Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe- (156)Tyr-COOH

Context nucleotide sequence:
TTTGGCAAAGAATTCACCCCACCAG [-/T] GCAGGCTGCCTATCAGAAAGTGGTG (Strand: -)

Also known as:

Comments: Reported in a heterozygote with thalassemia intermedia.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:Thalassaemia dominant
Dominant
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71954
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: Italian
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Murru S, Loudianos G, Deiana M, Camaschella C, Sciarratta GV, Agosti S, Parodi MI, Cerruti P, Cao A, Pirastu M, Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations., Blood, 77(6), 1342-7, 1991 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2023-08-09 10:42:31 (Show full history)

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