IthaID: 857



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 17 AAG>CAG HGVS Name: HBB:c.52A>C
Hb Name: Hb Nikosia Protein Info: β 17(A14) Lys>Gln

Context nucleotide sequence:
GTCTGCCGTTACTGCCCTGTGGGGC [A/C] AGGTGAACGTGGATGAAGTTGGTGG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGQVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Hb Nicosia

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70646
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. FESSAS C, KARAKLIS A, LOUKOPOULOS D, STAMATOYANNOPOULOS G, FESSAS P, HAEMOGLOBIN NICOSIA. AN ALPHA-CHAIN VARIANT AND ITS COMBINATION WITH BETA-THALASSAEMIA., Br J Haematol, 11(0), 323-30, 1965 PubMed
  2. Spivak VA, Some abnormal hemoglobin identifications in the U.S.S.R. by micropreparative thin layer peptide mapping., Hemoglobin, 13(2), 219-20, 1989 PubMed
  3. Kyrri AR, Felekis X, Kalogerou E, Wild BJ, Kythreotis L, Phylactides M, Kleanthous M, Hemoglobin variants in Cyprus., Hemoglobin, 33(2), 81-94, 2009 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2022-11-30 08:33:15 (Show full history)

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