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:

Also known as:

Comments: Hb Midnapore may be an unstable variant since it seems not to be observed at the biochemical level.

External Links


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


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 2016-10-25 12:05:19 (Show full history)

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