IthaID: 838


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 9 TCT>TGT HGVS Name: HBB:c.29C>G
Hb Name: Hb Pôrto Alegre Protein Info: β 9(A6) Ser>Cys

Context nucleotide sequence:
GTGCATCTGACTCCTGAGGAGAAGT [A/C/G] TGCCGTTACTGCCCTGTGGGGCAAG (Strand: -)

Protein sequence:
MVHLTPEEKCAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70623
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Argentine | Brazilian | Canary Islands
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Tondo C, Bonaventura J, Bonaventura C, Brunori M, Amiconi G, Antonini E, Functional properties of hemoglobin Pôrto Alegre (alpha2A beta2 9Ser leads to Cys) and the reactivity of its extra cysteinyl residue., Biochimica et biophysica acta, 342(1), 15-20, 1974
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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