IthaID: 54


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 5 -CT HGVS Name: HBB:c.17_18delCT
Hb Name: N/A Protein Info: β (-CT); modified C-terminal sequence: (5)Arg-Gly-Glu-Val-Cys-Arg-Tyr-Cys-Pro-Val- Gly-Gln-Gly-Glu-Arg-(20)Gly-COOH

Context nucleotide sequence:
ACAGACACCATGGTGCATCTGACTC [-/CT] GAGGAGAAGTCTGCCGTTACTGCCC (Strand: -)

Also known as:

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70611
Size: 2 bp
Located at: β
Specific Location: Exon 1

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(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Mediterranean, Pakistani
Inheritance: Recessive
DNA Sequence Determined: Yes

Frequencies

Publications / Origin

  1. Kollia P, Gonzalez-Redondo JM, Stoming TA, Loukopoulos D, Politis C, Huisman TH, Frameshift codon 5 [Fsc-5 (-CT)] thalassemia; a novel mutation detected in a Greek patient., Hemoglobin, 13(6), 597-604, 1989
  2. Yasmeen H, Toma S, Killeen N, Hasnain S, Foroni L, The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population., Eur J Med Genet , 59(8), 355-62, 2016
Created on 2010-06-16 16:13:14, Last reviewed on 2016-09-02 14:44:27 (Show full history)

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