IthaID: 4013

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 93 TGT>TGG [Cys>Trp] HGVS Name: HBD:c.282T>G
Hb Name: Hb A2-Pontedera Protein Info: delta 93(F9) Cys>Trp

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in a heterozygous state in a 36-year-old Moroccan woman with normal laboratory findings and clinical image. Normochromic, normocytosis with Hb A2+Hb A2-X 2.0 % of total Hb. HbA2-Pontedera is detected by capillary electrophoresis, producing a slight shouldering of Hb A2 in a more anodic position on the Capi 3 Hemoglobin kit.

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: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 63592
Size: 1 bp
Located at: δ
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Moroccan
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!


1Coviello, Domenico2023-01-30First report.
2Mogni, Massimo2023-01-30First report.
3Maffei, Massimo2023-01-30First report.
4Manzini, Serena2023-01-30First report.
Created on 2023-01-31 10:53:50, Last reviewed on 2023-06-09 09:46:00 (Show full history)

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