IthaID: 127


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 32 CTG>CAG: CD 98 GTG>ATG HGVS Name: HBB:c.[98T>A; 295G>A]
Hb Name: Hb Medicine Lake Protein Info: β 32(B14) Leu>Gln β 98(FG5) AND Val>Met

Context nucleotide sequence:
TGAGCTGCACTGTGACAAGCTGCAC [A/G/T] TGGATCCTGAGAACTTCAGGGTGAG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHMDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:Thalassaemia dominant
Dominant
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70822
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Caucasian
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Coleman MB, Lu ZH, Smith CM, Adams JG, Harrell A, Plonczynski M, Steinberg MH, Two missense mutations in the beta-globin gene can cause severe beta thalassemia. Hemoglobin Medicine Lake (beta 32[B14]leucine-->glutamine; 98 [FG5] valine-->methionine)., The Journal of clinical investigation, 95(2), 503-9, 1995
Created on 2010-06-16 16:13:14, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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