IthaID: 1204



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 117 CAC>CGC HGVS Name: HBB:c.353A>G
Hb Name: Hb P-Galveston Protein Info: β 117(G19) His>Arg

Context nucleotide sequence:
GTGCTGGTCTGTGTGCTGGCCCATC [A/C/G] CTTTGGCAAAGAATTCACCCCACCA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHRFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71927
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: 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. Schneider RG, Alperin JB, Brimhall B, Jones RT, Hemoglobin P (alpha 2 beta 2 117 Arg): structure and properties., The Journal of laboratory and clinical medicine, 73(4), 616-22, 1969 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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