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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar

LOVD

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

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

In silico pathogenicity prediction

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

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)

A/A	Date	Curator(s)	Comments
1	2016-08-23 14:38:29	The IthaGenes Curation Team	Created
2	2016-08-24 15:08:56	The IthaGenes Curation Team	Reviewed.
3	2016-10-25 12:05:19	The IthaGenes Curation Team	Reviewed. Reference added.
4	2022-03-03 14:16:04	The IthaGenes Curation Team	Reviewed. Comment added. Chromosomal location corrected.

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.