IthaID: 46


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Init CD ATG>AAG HGVS Name: HBB:c.2T>A
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CACTAGCAACCTCAAACAGACACCA [A/C/G/T] GGTGCATCTGACTCCTGAGGAGAAG (Strand: -)

Protein sequence:
KVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70596
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: Initiation codon (Translation)
Ethnic Origin: N European
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Publications / Origin

  1. Waye JS, Eng B, Patterson M, Barr RD, Chui DH, De novo mutation of the beta-globin gene initiation codon (ATG-->AAG) in a Northern European boy., American journal of hematology, 56(3), 179-82, 1997
Created on 2010-06-16 16:13:14, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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