IthaID: 1265


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 135 GCT>CCT [Ala>Pro] HGVS Name: HBB:c.406G>C
Hb Name: Hb Altdorf Protein Info: β 135(H13) Ala>Pro

Context nucleotide sequence:
GCAGGCTGCCTATCAGAAAGTGGTG [C/G] CTGGTGTGGCTAATGCCCTGGCCCA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVPGVANALAHKYH

Also known as:

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71980
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Italian
Molecular mechanism: Altered secondary structure
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Marti HR, Winterhalter KH, di Iorio EE, Lorkin PA, Lehmann H, Hb Altdorf alpha2beta2 135 (H13) Ala leads to Pro: a new electrophoretically silent unstable haemoglobin variant from Switzerland., FEBS letters, 63(1), 193-96, 1976
Created on 2010-06-16 16:13:17, Last reviewed on 2014-10-09 17:00:28 (Show full history)

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