IthaID: 2298


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 17 AAG>ATG (Lys>Met) HGVS Name: HBB:c.53A>T
Hb Name: Hb Ede Protein Info: β 17 Lys>Met

Protein sequence:
MVHLTPEEKSAVTALWGMVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Found in a one-year old girl with iron-resistant microcytic anaemia, some persistent Hb F and borderline raised Hb A2 (3.2%). A half-normal value for the β:α-globin synthesis ratio was indicative of a serious thalassaemic feature, rather than instability of the protein.

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:β0 / β+
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70647
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. van Zwieten R, Veldthuis M, Delzenne B, Berghuis J, Groen J, Ait Ichou F, Clifford E, Harteveld CL, Stroobants AK, Hemoglobin Analyses in The Netherlands Reveal More Than 80 Different Variants Including Six Novel Ones., Hemoglobin , 2013
Created on 2014-01-08 12:41:05, Last reviewed on 2016-08-24 15:24:10 (Show full history)

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