IthaID: 2976



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 64 GGC>GTC [Gly>Val] HGVS Name: HBB:c.194G>T
Hb Name: Hb Calgary Protein Info: β 64(E8) Gly>Val

Context nucleotide sequence:
CAACCCTAAGGTGAAGGCTCATG [G/T] CAAGAAAGTGCTCGGTGCCTTTA (Strand: +)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHVKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Found as de novo mutation, in two unrelated cases in early infancy, presented with severe transfusion-dependent haemolytic anaemia and severe dyserythropoiesis. The variant was hyperunstable and was not isolated on Hb electrophoresis. According to the American College of Medical Genetics and Genomics (ACMG) variant interpretation guideline, was classified as highly likely pathogenic.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:N/A
Stability: Hyperunstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70918
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: Canadian, Pakistani
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016 PubMed
  2. Martin G, Grimholt RM, Le D, Bechensteen AG, Klingenberg O, Fjeld B, Fourie T, Perrier R, Proven M, Henderson SJ, Roy NBA, Hb Calgary (: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype., Hemoglobin, 45(4), 215-219, 2021 PubMed
Created on 2016-08-23 16:04:34, Last reviewed on 2022-03-02 13:43:51 (Show full history)

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