IthaID: 3583

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 106 CTG>CGG [Leu>Arg] HGVS Name: HBA2:c.320T>G
Hb Name: Hb Beckett Protein Info: N/A

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Red cell indices were microcytic and hypochromic. Previously reported mutations close to this region were reported to have a thalassaemic phenotype. Two small peaks were detected (<1%) after the HbA2 in BioRad Variant II (Dual Program).

External Links

No available links


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34354
Size: 1 bp
Located at: α2
Specific Location: Exon 3


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

Other details

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

Publications / Origin

To the best of our knowledge, this is unpublished data.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


1Daniel, Yvonne2020-04-22First report.
2Monteiro, Daniel2020-04-22First report.
Created on 2020-04-24 12:53:47, Last reviewed on 2020-04-27 22:41:49 (Show full history)

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