IthaID: 52

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 3 (+T)	HGVS Name:	HBB:c.11dupT
Hb Name:	N/A	Protein Info:	N/A
Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Context nucleotide sequence:
ACCTCAAACAGACACCATGGTGCATCT [-/T] GACTCCTGAGGAGAAGTCTGCCGTTA (Strand: -)

Comments: Found in three chromosomes among Turkish patients from Antalya. The insertion of a nt T in codon 3 creates a shift in the reading frame with a premature stop codon at codon 6 (TGA).

External Links

ClinVar

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	β-thalassaemia
Allele Phenotype:	β0
Associated Phenotypes:	Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	70605
Size:	1 bp
Located at:	β
Specific Location:	Exon 1

Other details

Type of Mutation:	Point-Mutation(Insertion)
Effect on Gene/Protein Function:	Frameshift (Translation)
Ethnic Origin:	Turkish
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	No

In silico pathogenicity prediction

Publications / Origin

Keser I, Sanlioglu AD, Manguoglu E, Guzeloglu Kayisli O, Nal N, Sargin F, Yesilipek A, Simsek M, Mendilcioglu I, Canatan D, Luleci G, Molecular analysis of beta-thalassemia and sickle cell anemia in Antalya., Acta haematologica, 111(4), 205-10, 2004

Created on 2010-06-16 16:13:14, Last reviewed on 2019-11-13 16:09:12 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:14	The IthaGenes Curation Team	Created
2	2013-10-15 17:28:32	The IthaGenes Curation Team	Reviewed.
3	2019-11-13 16:09:12	The IthaGenes Curation Team	Reviewed. Mutation names and Location corrected. Allele, Context sequence and Comment added.

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