IthaID: 3361



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 138/139 (+T) HGVS Name: HBB:c.417dupT
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CAGAAAGTGGTGGCTGGTGTGGGCT [-/T] AATGCCCTGGCCCACAAGTATCACT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVAX

Also known as:

Comments: The β-thal phenotype was derived using in silico predictors (SIFT and POLYPHEN). The insertion of a nt T between codon 138 and codon 139 creates a shift in the reading frame with a premature stop codon at codon 139 (TAA).

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71991
Size: 1 bp
Located at: β
Specific Location: Exon 3

Phenotype

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

Other details

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

Sequence Viewer

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Publications / Origin

  1. Lin F, Yang L, Lin M, Zheng X, Lu M, Qiu M, Li L, Xie L, [Rare thalassemia mutations among southern Chinese population]., Zhonghua Yi Xue Yi Chuan Xue Za Zhi , 34(6), 792-796, 2017 PubMed
  2. Jiang F, Huang LY, Chen GL, Zhou JY, Xie XM, Li DZ, A Novel Frameshift Mutation at Codons 138/139 (HBB: c.417_418insT) on the β-Globin Gene Leads to β-Thalassemia., Hemoglobin, 41(1), 59-60, 2017 PubMed
Created on 2019-04-04 15:51:19, Last reviewed on 2019-11-13 14:35:30 (Show full history)

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