IthaID: 3359

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 13 GCC>ACC [Ala>Thr] HGVS Name: HBB:c.40G>A
Hb Name: Hb Tower Hamlets Protein Info: N/A

Context nucleotide sequence:

Protein sequence:

Comments: Co-inherited with beta plus thalassaemia mutation. Runs with Hb A on HPLC (Biorad VNBS) and IEF. Detected via newborn screening with MSMS.

External Links

No available links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70634
Size: 1 bp
Located at: β
Specific Location: Exon 1


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: N/A
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: Bangladeshi/Pakistani
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Unknown

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

To the best of our knowledge, this is unpublished data.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


1Daniel, Yvonne2019-01-17First report.
2Monteiro, Daniel2019-01-17First report.
Created on 2019-03-27 17:00:17, Last reviewed on (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.

Please publish modules in offcanvas position.