IthaID: 3546

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 130 TAT>-AT HGVS Name: HBD:c.391delT
Hb Name: Hb A2-Gaslini 1 Protein Info: p.Tyr131Ilefs?

Context nucleotide sequence:

Also known as:

Comments: Single nucleotide deletion (-T) generating a frameshift with elongation of the δ-globin chain to 212 amino acids. Found in a heterozygous state. Presents with normochromic normocytic red cell morphology, HbA2 level 1.6% and HbF level 0.6%. No visible peak on HPLC, hence presumed to be unstable.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 64599
Size: 1 bp
Located at: δ
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Mahmud N, Maffei M, Mogni M, Forni GL, Pinto VM, Barberio G, Ungari S, Maffè A, Curcio C, Zanolli F, Paventa R, Carta M, Caleffi A, Mercadanti M, Maoggi S, Ivaldi G, Coviello D, Hemoglobin A and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene., Genes (Basel), 12(11), 0, 2021 PubMed


1Coviello, Domenico2019-12-12First report.
2Maffei, Massimo2019-12-12First report.
Created on 2019-12-16 16:26:15, Last reviewed on 2023-03-13 15:17:19 (Show full history)

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