IthaID: 118


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: IVS I-130 G>C HGVS Name: HBB:c.93-1G>C
Hb Name: N/A Protein Info: β nt 272 G>C

Context nucleotide sequence:
CTATTGGTCTATTTTCCCACCCTTA [A/C/G] GCTGCTGGTGGTCTACCCTTGGACC (Strand: -)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70816
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)
Ethnic Origin: Italian, Japanese, UAE
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Frequencies

Publications / Origin

  1. Renda M, Maggio A, Warren TC, Kazazian HH, Detection of an IVS-1 3' end (G-C) beta-thalassemia mutation in the AG invariant dinucleotide of the acceptor splice site in a Sicilian subject., Genomics, 13(1), 234-5, 1992
  2. Yamamoto K, Yamamoto K, Hattori Y, Yamashiro Y, Hoshitani M, Morishita M, Ohba Y, Katahira H, Karasawa M, Omine M, Two beta-thalassemia mutations in Japan: codon 121 (GAA----TAA) and IVS-I-130 (G----C)., Hemoglobin, 16(4), 295-302, 1992
  3. el-Kalla S, Mathews AR, A significant beta-thalassemia heterogeneity in the United Arab Emirates., Hemoglobin, 21(3), 237-47, 1997
Created on 2010-06-16 16:13:14, Last reviewed on 2014-04-08 12:40:02 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.