IthaID: 4012

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 123 ACC>GCC [Thr>Ala] HGVS Name: HBD:c.370A>G
Hb Name: Hb A2-Kuching Protein Info: N/A

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: The mutation changes threonine to alanine. It was found on three individuals. The 1st patient had HbA2 of 2% and was negative for the common alpha thalassemia (gap and arms panels). The 2nd patient had HbA2 of 1.7% with alpha 3.7kb deletion. The 3rd patient had HbA2 of 1.4%, however alpha thalassemia was not investigated. No HbA2’ in all patients.

External Links

No available 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: 64578
Size: 1 bp
Located at: δ
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data.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


1Syahzuwan, Hassan2023-01-25First report.
Created on 2023-01-27 12:18:23, Last reviewed on 2023-03-13 15:12:12 (Show full history)

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