IthaID: 1308



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 145 TAT>CAT HGVS Name: HBB:c.436T>C
Hb Name: Hb Bethesda Protein Info: β 145(HC2) Tyr>His

Context nucleotide sequence:
TGTGGCTAATGCCCTGGCCCACAAG [A/C/G/T] ATCACTAAGCTCGCTTTCTTGCTGT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKHH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 72010
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: 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: Canadian | Caucasian | Chinese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Bunn HF, Bradley TB, Davis WE, Drysdale JW, Burke JF, Beck WS, Laver MB, Structural and functional studies on hemoglobin Bethesda (alpha2beta2 145His), a varient associated with compensatory erythrocytosis., The Journal of clinical investigation, 51(9), 2299-309, 1972 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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