IthaID: 1182



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 112 TGT>CGT HGVS Name: HBB:c.337T>C
Hb Name: Hb Indianapolis Protein Info: β 112(G14) Cys>Arg

Context nucleotide sequence:
ACAGCTCCTGGGCAACGTGCTGGTC [C/T] GTGTGCTGGCCCATCACTTTGGCAA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVRVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71911
Size: 1 bp
Located at: β
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
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: Spanish
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Adams JG, Steinberg MH, Boxer LA, Baehner RL, Forget BG, Tsistrakis GA, The structure of hemoglobin Indianapolis [beta112(G14) arginine]. An unstable variant detectable only by isotopic labeling., The Journal of biological chemistry, 254(9), 3479-82, 1979 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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