IthaID: 1300



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 143 CAC>CCC HGVS Name: HBB:c.431A>C
Hb Name: Hb Syracuse Protein Info: β 143(H21) His>Pro

Context nucleotide sequence:
GCTGGTGTGGCTAATGCCCTGGCCC [A/C/G/T] CAAGTATCACTAAGCTCGCTTTCTT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAPKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 72005
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: Caucasian | Japanese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Jensen M, Oski FA, Nathan DG, Bunn HF, Hemoglobin Syracuse (alpha2beta2-143(H21)His leads to Pro), a new high-affinity variant detected by special electrophoretic methods. Observations on the auto-oxidation of normal and variant hemoglobins., The Journal of clinical investigation, 55(3), 469-77, 1975 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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