IthaID: 3846



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 118 (-TT) HGVS Name: HBB:c.356_357delTT
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CTGGTCTGTGTGCTGGCCCATCACT [TT/-] GGCAAAGAATTCACCCCACCAGTGC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHWQRIHPTSAGCLSESGGWCGX

Also known as:

Comments: : Found in a 5-month-old female presented with severe congenital anaemia (Hb 5.9 g/dL, RBC 3.17×10^12/L) and moderate microcytosis (MCV 60.5 fL) and hypochromia (MCH 18.8 pg). The patient had transfusion-dependent β0-thalassaemia. The 2bp deletion, causing a frameshift that introduces a premature stop codon twenty amino acids further down the new reading frame.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71930
Size: 2 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Iraqi Kurd
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Atroshi SD, Al-Allawi N, Chui DHK, Najmabadi H, Khailany RA, A Novel β-Thalassemia Mutation, : c.356_357delTT [Codon 118 (-TT)] in an Iraqi Kurd., Hemoglobin, 45(3), 212-214, 2021 PubMed
Created on 2021-08-23 12:34:58, Last reviewed on 2021-08-23 12:59:15 (Show full history)

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