IthaID: 3404


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 133-135 (-AGCACCG) HGVS Name: HBA2:c.400_406del
Hb Name: Hb Aalesund Protein Info: α2 133-135 (-AGCACCG); modified C-terminal sequence

Also known as:

Comments: Found as a heterozygote. The 7 base-pair deletion creates a frameshift in codon 133 and the new reading frame ends in a termination codon two positions downstream, in the last exon of the HBA2 gene. The PTC in Hb Aalesund would most likely bypass the nonsense-mediated decay mechanism and an unstable truncated protein will be translated. The truncated α chain in Hb Aalesund is missing leucine at position 136(H19), which is one of the amino acids lining the interior of the heme pocket. This might affect the stability of the protein. Interfers with HbA1c measurement, causing a falsely high HbA1c with certain instruments.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34434
Size: 7 bp
Located at: α2
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Grimholt RM, Fjeld B, Selsås H, Schwettmann L, Klingenberg O, Hb Aalesund (: c.400_406delAGCACCG), an Unstable α-Globin Variant Found in a Norwegian Patient Causing Moderate Hemolytic Anemia and Falsely High Hb A Using Ion Exchange High Performance Liquid Chromatography., Hemoglobin, 43(2), 122-125, 2019
Created on 2019-04-12 09:41:06, Last reviewed on 2024-02-06 11:32:40 (Show full history)

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