IthaID: 1084


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 86 GCC>CCC HGVS Name: HBB:c.259G>C
Hb Name: Hb Cardarelli Protein Info: β 86(F2) Ala>Pro

Context nucleotide sequence:
CCTGGACAACCTCAAGGGCACCTTT [A/C/G] CCACACTGAGTGAGCTGCACTGTGA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFPTLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70983
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

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

Publications / Origin

  1. Pagano L, Salzano AM, Carbone V, Iannelli D, Viola A, Pollio F, Prossomariti L, David O, Ricco G, Pucci P, Hb Cardarelli [beta86(F2)Ala-->Pro]: a new unstable and hyperaffine variant in association with beta(+)-thalassemia., Hemoglobin, 28(2), 103-15, 2004
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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