IthaID: 2954


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
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

Also known as:

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

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

Location

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

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Thai
Molecular mechanism: Altered heme pocket
Inheritance: Recessive
DNA Sequence Determined: Yes

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
Created on 2016-08-23 10:59:27, Last reviewed on 2017-09-16 10:41:36 (Show full history)

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