IthaID: 4108

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 10 GCC>GTC [Ala>Val]	HGVS Name:	HBB:c.31_32insT
Hb Name:	N/A	Protein Info:	β 10(A7) Ala>Val

Context nucleotide sequence:
GCATCTGACTCCTGAGGAGAAGTCT [-/T] CCGTTACTGCCCTGTGGGGCAAGGT (Strand: -)

Protein sequence:
MVHLTPEEKSVVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Found in three Syrian immigrants during an update of the variant spectrum in the HBB gene in Turkey. The T insertion causes a frameshift that introduces a premature stop codon thirteen amino acids downstream in the new reading frame (p.Ala11ValfsTer13). In silico genetic prediction tools evaluate this variant to be likely pathogenic according to the recommendations of the ACMG.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	β-thalassaemia
Allele Phenotype:	N/A
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	70625
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:	Syrian
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Kocak Eker H, Balasar O, Distinct Distribution of HBB Variants in Two Cohorts of Beta Thalassemia Patients, and a Novel Variant from Turkey., Mol Syndromol, 15(5), 362-370, 2024 PubMed

Created on 2024-10-14 10:18:54, Last reviewed on 2024-10-14 10:24:14 (Show full history)

A/A	Date	Curator(s)	Comments
1	2024-10-14 10:18:54	The IthaGenes Curation Team	Created
2	2024-10-14 10:24:14	The IthaGenes Curation Team	Reviewed. Comments added.

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