IthaID: 971


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 50 ACT>AAG or AAA HGVS Name: HBB:c.[152C>A;153T>A] | HBB:c.[152C>A;153T>G]
Hb Name: Hb Edmonton Protein Info: β 50(D1) Thr>Lys

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSKPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70876
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Ukranian
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Labossiere A, Hill JR, Vella F, A new Tp V hemoglobin variant: Hb edmonton., Clinical biochemistry, 4(2), 114-7, 1971
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (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.