IthaID: 3404


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 133-135 (-AGCACCG) HGVS Name: HBA2:c.400_406delAGCACCG
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 frameshift variant will most likely bypass the nonsense-mediated decay mechanism and a unstable truncated protein will be translated. Interfers with HbA1c measurement, causing a falsely high HbA1c with certain instruments.

External Links

Location

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

Phenotype

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

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

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Created on 2019-04-12 09:41:06, Last reviewed on (Show full history)

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