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.
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 |
In silico pathogenicity prediction
Sequence Viewer
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
| 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. |