IthaID: 2954



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 42 TTT>TT- HGVS Name: HBB:c.129delT
Hb Name: Hb Yala Protein Info: β 42 (-T); modified C-terminal sequence: (42)Leu-Ser-Pro-Leu-Gly-Ile-Cys-Pro-Leu-Leu- Met-Leu-Leu-Trp-Ala-Thr-Leu-Arg-(60)COOH

Comments: Found as a heterozygote with the Hb E variant. The deletion causes a frameshift at codon 42 which results in a premature termination codon (PTC) at codon 60.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70853
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:β0
Stability: N/A
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: Thai
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

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

  1. Ekwattanakit S, Riolueang S, Viprakasit V, Interaction between Hb E and Hb Yala (HBB:c.129delT); a novel frameshift beta globin gene mutation, resulting in Hemoglobin E/β(0) thalassemia., Hematology , 2017 PubMed
Created on 2016-08-23 10:59:27, Last reviewed on 2017-09-16 10:41:36 (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.