IthaID: 120


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: IVS I-130 (+1) or CD 30, (G>C); AGG>AGC (Arg>Ser) HGVS Name: HBB:c.93G>C
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TATTGGTCTATTTTCCCACCCTTAG [C/G/T] CTGCTGGTGGTCTACCCTTGGACCC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGSLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70817
Size: 1 bp
Located at: β
Specific Location: Intron 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(Substitution)
Effect on Gene/Protein Function: Splice junction (mRNA Processing), Missense codons (Protein Structure)
Ethnic Origin: Middle East, Pakistani
Inheritance: Recessive
DNA Sequence Determined: Yes

Frequencies

Publications / Origin

  1. el-Kalla S, Mathews AR, A significant beta-thalassemia heterogeneity in the United Arab Emirates., Hemoglobin, 21(3), 237-47, 1997
  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 2017-05-29 10:59:14 (Show full history)

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