IthaID: 817



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 6 GAG>GTG; CD 73 GAT>AAT HGVS Name: HBB:c.[20A>T;220G>A]
Hb Name: Hb C-Harlem Protein Info: β 6(A3) Glu>Val AND β 73(E17) Asp>Asn

Context nucleotide sequence:
GACACCATGGTGCATCTGACTCCTG [A/C/G/T] GGAGAAGTCTGCCGTTACTGCCCTG (Strand: -)

Protein sequence:
MVHLTPVEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70614
Size: 1 bp
Located at: β
Specific Location: Exon 1

Phenotype

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

Other details

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

Sequence Viewer

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Publications / Origin

  1. Bookchin RM, Nagel RL, Ranney HM, Structure and properties of hemoglobin C-Harlem, a human hemoglobin variant with amino acid substitutions in 2 residues of the beta-polypeptide chain., The Journal of biological chemistry, 242(2), 248-55, 1967 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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