IthaID: 1037



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 71 TTT>TCT HGVS Name: HBB:c.215T>C
Hb Name: Hb Christchurch Protein Info: β 71(E15) Phe>Ser

Context nucleotide sequence:
CATGGCAAGAAAGTGCTCGGTGCCT [C/T] TAGTGATGGCCTGGCTCACCTGGAC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGASSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70939
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: Unstable
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: Australian | Japanese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Carrell RW, Owen MC, A new approach to haemoglobin variant identification. Haemoglobin Christchurch beta-71 (E15) phenylalanine leads to serine., Biochimica et biophysica acta, 236(3), 507-11, 1971 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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