IthaID: 97


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 30 (A>G) or IVS I (-2) AGG>GGG (Arg>Gly) HGVS Name: HBB:c.91A>G
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TGAAGTTGGTGGTGAGGCCCTGGGC [A/C/G] GGTTGGTATCAAGGTTACAAGACAG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGGLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70685
Size: 1 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(Substitution)
Effect on Gene/Protein Function: Splice junction (mRNA Processing)
Ethnic Origin: Sephardic Jews
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Frequencies

Publications / Origin

  1. Waye JS, Eng B, Patterson M, Chui DH, Fernandes BJ, Novel beta-thalassemia mutation in patients of Jewish descent: [beta 30(B12)Arg-->Gly or IVS-I(-2)(A-->G)]., Hemoglobin, 22(1), 83-5, 1998
Created on 2010-06-16 16:13:14, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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