IthaID: 1000


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 60 GTG>GCG [Leu>Ala] HGVS Name: HBB:c.182T>C
Hb Name: Hb Collingwood Protein Info: β 60(E4) Val>Ala

Context nucleotide sequence:
GATGCTGTTATGGGCAACCCTAAGG [T>C] GAAGGCTCATGGCAAGAAAGTGCTC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKAKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: β60 Val>Ala (both hydrophobic amino acids) results in a moderately unstable β variant and clinically silent phenotype.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70906
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Greek
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Williamson D, Brennan SO, Muir H, Carrell RW, Hemoglobin Collingwood beta 60 (E4) Val replaced by Ala. A new unstable hemoglobin., Hemoglobin, 7(6), 511-9, 1983
  2. Thein SL, Dominant beta thalassaemia: molecular basis and pathophysiology., Br J Haematol, 80(3), 273-7, 1992
Created on 2010-06-16 16:13:16, Last reviewed on 2022-11-30 14:13:12 (Show full history)

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