IthaID: 2964



Names and Sequences

Functionality: Globin gene causative mutation
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

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

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70885
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Indian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.

Please publish modules in offcanvas position.