IthaID: 116



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: IVS I-129 (A>C) HGVS Name: HBB:c.93-2A>C
Hb Name: N/A Protein Info: β nt 271 A>C

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70815
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: Consensus splice site (mRNA Processing)
Ethnic Origin: Sri Lankan
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Frequencies

Publications / Origin

  1. Old JM, Khan SN, Verma I, Fucharoen S, Kleanthous M, Ioannou P, Kotea N, Fisher C, Riazuddin S, Saxena R, Winichagoon P, Kyriacou K, Al-Quobaili F, Khan B, A multi-center study in order to further define the molecular basis of beta-thalassemia in Thailand, Pakistan, Sri Lanka, Mauritius, Syria, and India, and to develop a simple molecular diagnostic strategy by amplification refractory mutation system-polymerase chain reaction., Hemoglobin, 25(4), 397-407, 2001 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2014-10-09 12:31:20 (Show full history)

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