IthaID: 954


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 44 TCC>TGC HGVS Name: HBB:c.134C>G
Hb Name: Hb Mississippi Protein Info: β 44(CD3) Ser>Cys

Context nucleotide sequence:
CCTTGGACCCAGAGGTTCTTTGAGT [C/G] CTTTGGGGATCTGTCCACTCCTGAT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFECFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70858
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: N/A
Associated Phenotypes: N/A

Other details

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

Publications / Origin

  1. Steinberg MH, Adams JG, Morrison WT, Pullen DJ, Abney R, Ibrahim A, Rieder RF, Hemoglobin Mississippi (beta 44ser----cys). Studies of the thalassemic phenotype in a mixed heterozygote with beta +-thalassemia., The Journal of clinical investigation, 79(3), 826-32, 1987
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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