IthaID: 1152



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 102 AAC>AGC HGVS Name: HBB:c.308A>G
Hb Name: Hb Beth Israel Protein Info: β 102(G4) Asn>Ser

Context nucleotide sequence:
GACAAGCTGCACGTGGATCCTGAGA [A/C/G] CTTCAGGGTGAGTCTATGGGACGCT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPESFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71032
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: Decreased Oxygen Affinity
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Italian | Yugoslavian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Nagel RL, Lynfield J, Johnson J, Landau L, Bookchin RM, Harris MB, Hemoglobin Beth Israel. A mutant causing clinically apparent cyanosis., The New England journal of medicine, 295(3), 125-30, 1976 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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