IthaID: 1120



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 95 AAG>ATG HGVS Name: HBB:c.287A>T
Hb Name: Hb J-Cordoba Protein Info: β 95(FG2) Lys>Met

Context nucleotide sequence:
ACACTGAGTGAGCTGCACTGTGACA [A/T] GCTGCACGTGGATCCTGAGAACTTC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDMLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71011
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: N/A
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: N/A

Other details

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

Sequence Viewer

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Publications / Origin

  1. Bardakdjian J, Kister J, Rhoda MD, Marden M, Arous N, De Leon J, North ML, Lacombe C, Blouquit Y, Castracane C, Hb J-Cordoba [alpha 2A beta 2(95)(FG2)Lys----Met]. A new Hb variant found in Argentina., Hemoglobin, 12(1), 1-11, 1988 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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