IthaID: 1151


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 102 AAC>CAC [Asn>His] HGVS Name: HBB:c.307A>C
Hb Name: Hb Canebiere Protein Info: β 102(G4) Asn>His

Context nucleotide sequence:
TGACAAGCTGCACGTGGATCCTGAG [A/C/T] ACTTCAGGGTGAGTCTATGGGACGC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPEHFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71031
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: North African
Molecular mechanism: Altered α1β1 interface
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Thuret I, Mely L, Kister J, Kiger L, Merono F, Badier M, Badens C, Association of HbS and a new low oxygen affinity variant, Hb Canebière, [beta102(G4)Asn->Lys] in a healthy child., Haematologica, 89(9), ECR31, 2004
  2. Froelund U, Sandbakken E, Szecsi P, Birgens H, Further studies on Hb Canebière [β12(G4)Asn→His], a low affinity hemoglobin variant., Hemoglobin , 34(5), 495-9, 2010
Created on 2010-06-16 16:13:16, Last reviewed on 2014-06-04 09:26:44 (Show full history)

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