IthaID: 994


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 58 CCT>CAT [Pro>His] HGVS Name: HBB:c.176C>A
Hb Name: Hb Sheffield Protein Info: β 58(E2) Pro>His

Context nucleotide sequence:
ACTCCTGATGCTGTTATGGGCAACC [C>A] TAAGGTGAAGGCTCATGGCAAGAAA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNHKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70900
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: British, Omani
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Frequencies

Publications / Origin

  1. Al Zadjali S, Daar S, AlKindi S, Gravell D, Al Haddabi H, Berbar T, Krishnamoorthy R, Hb Sheffield [β58(E2)Pro→His] in Oman: potential pitfall in genetic counseling., Hemoglobin , 35(2), 111-6, 2011
Created on 2010-06-16 16:13:16, Last reviewed on 2023-08-04 12:51:35 (Show full history)

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