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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	LOVD
ClinVar

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

IthaPhen

Heterozygous records (preview in IthaPhen)

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

In silico pathogenicity prediction

Publications / Origin

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)

A/A	Date	Curator(s)	Comments
1	2016-08-23 10:59:27	The IthaGenes Curation Team	Created
2	2016-08-23 11:04:20	The IthaGenes Curation Team	Reviewed.
3	2016-08-24 14:30:17	The IthaGenes Curation Team	Reviewed.
4	2017-09-16 10:39:26	The IthaGenes Curation Team	Reviewed. Mutation comment edited. Other Details section updated. Reference added.
5	2017-09-16 10:41:36	The IthaGenes Curation Team	Reviewed. Detection methods section updated.

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