IthaID: 2964



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 53 GCT>GTT [Ala>Val] HGVS Name: HBB:c.161C>T
Hb Name: Hb Midnapore Protein Info: β 53(D4) Ala>Val

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDVVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: This variants was found in cis with IVS I-5 G>C [HBB:c.92+5G>C] in a Bengali Indian family. The proband (IVS I-5/ IVS I-5 in cis cod53) is a transfusion-dependent beta-TM patient. The grandmother, mother, and sister (β/IVS I-5 in cis cod53) were not thalassemic. The peripheral blood smear showed hypochromic RBC along with target cells in all three. Unknown Hb variant peak detected by capillary electrophoresis. No flocculent precipitation after heat and isopropanol stability tests. Due to the presence of IVS I-5 G>C at the exon 1-intron 1 boundary (prior to cod53 at exon 2), a very small proportion of the β-globin chain containing the Hb Midnapore variant may get synthesized. Could also be an unstable variant since it seems not to be observed at the biochemical level.

External Links

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: 70885
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: Indian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Panja A, Chowdhury P, Basu A, Hb Midnapore [β53(D4)Ala→Val; HBB: c.161C > T]: A Novel Hemoglobin Variant with a Structural Abnormality Associated with IVS-I-5 (G > C) (HBB: c.92 + 5G > C) Found in a Bengali Indian Family., Hemoglobin , 2016 PubMed
Created on 2016-08-23 14:38:29, Last reviewed on 2022-03-03 14:16:04 (Show full history)

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