IthaID: 144

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 40 (+86 bp)	HGVS Name:	HBB:c.123_208dup
Hb Name:	N/A	Protein Info:	N/A
Also known as:	HGSA

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Comments: This insertion consists of a duplication of the immediately downstream sequence, causing a frameshift and a premature stop codon. The predicted protein sequence carries the first 70 amino- acids of the normal b-globin, followed by 19 mutated aminoacids. The resulting polypeptide is thus 58 aminoacids shorter than the wild type. The boundaries of the insertion were found to carry an imperfect splicing sequence.

External Links

LOVD

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:	70847
Size:	86 bp
Located at:	β
Specific Location:	Exon 2

Other details

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

In silico pathogenicity prediction

Publications / Origin

Cabeda JM, Correia C, Estevinho A, Simões C, Amorim ML, Pinho L, Justiça B, Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern Portugal., British journal of haematology, 105(1), 68-74, 1999

Created on 2010-06-16 16:13:15, Last reviewed on 2020-05-04 13:00:53 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:15	The IthaGenes Curation Team	Created
2	2013-10-15 17:28:32	The IthaGenes Curation Team	Reviewed.
3	2018-04-25 11:53:03	The IthaGenes Curation Team	Reviewed. Comment and synonym added.
4	2020-04-29 21:00:23	The IthaGenes Curation Team	Reviewed. Chromosome and locus location corrected. HGVS name added.
5	2020-04-30 16:27:36	The IthaGenes Curation Team	Reviewed. Type of mutation corrected.
6	2020-05-04 13:00:53	The IthaGenes Curation Team	Reviewed. Specific location added.

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