IthaID: 3876
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 96 CTG>CGG [Leu>Arg] | HGVS Name: | HBB:c.290T>G |
| Hb Name: | Hb Laibin | Protein Info: | β 96(FG3) Leu>Arg |
Context nucleotide sequence:
CTGAGTGAGCTGCACTGTGACAAGC [T/G] GCACGTGGATCCTGAGAACTTCAGG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKAHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Found in a 29-year-old Chinese male presented with normal hematological indices (Hb 17.5 g/dL, MCV 91.3 fL, MCH 29.6 pg, RBC 5.92×1012/L). HbX and HbF cannot be separated using capillary 2 Flex Piercing device, and both located in Zone 7. The results shown HbA 64.5%, HbF + HbX 32.3% and HbA2 3.2%.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | β+ |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71014 |
| 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: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Huang YY, Huang J, Ye LH, Liang L, Li YQ, Hb Laibin [β96(FG3)Leu→Arg; : c.290T>G]: A Novel Hemoglobin Variant Described in a Chinese Family., Hemoglobin, 2022
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Youqiong | 2021-11-12 | First report. |
Created on 2021-12-15 13:05:33,
Last reviewed on 2022-06-09 08:59:40 (Show full history)
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