IthaID: 812


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 6 GAG>AAG; CD 83 GGC>GAC HGVS Name: HBB:c.[19G>A;251G>A]
Hb Name: Hb C-New Cross Protein Info: β 6(A3) Glu>Lys AND β 83(EF7) Gly>Asp

Context nucleotide sequence:
CTGGCTCACCTGGACAACCTCAAGG [A/G/T] CACCTTTGCCACACTGAGTGAGCTG (Strand: -)

Protein sequence:
MVHLTPKEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70613
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

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

Publications / Origin

  1. Wild BJ, Green BN, Cooper EK, Lalloz MR, Erten S, Stephens AD, Layton DM, Rapid identification of hemoglobin variants by electrospray ionization mass spectrometry., Blood cells, molecules & diseases, 27(3), 691-704, 2001
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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