IthaID: 3248
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 13 GCC>GTC [Ala>Val] | HGVS Name: | HBB:c.41C>T |
| Hb Name: | Hb Yulin | Protein Info: | β 13(A10) Ala>Val |
Protein sequence:
MVHLTPEEKSAVTVLWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: First discovered by target next-generation sequencing with 0.000045 of frequency in 22260 samples (South China origin). In a recent report, was found in a female during routine thalassemia screening. Hb variant was not detected with the common methods of HPLC and CE but with MALDI-TOF and mass spectrometry.
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: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70635 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Su HX, Li F, Liang L, Zou XB, Li YQ, Detection of Hb Yulin [β13(A10)Ala→Val, : c.41C>T] by Matrix-Assisted Laser Desorption Ionization-Time-of-Flight Mass Spectrometry., Hemoglobin, 2022 PubMed
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Xu, Xiangmin | 2017-08-09 | First report. |
Created on 2017-08-21 12:45:46,
Last reviewed on 2022-06-29 10:24:21 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2017-08-21 12:45:46 | The IthaGenes Curation Team | Created |
| 2 | 2017-08-21 12:47:36 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2017-08-21 12:49:41 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2022-06-29 10:23:30 | The IthaGenes Curation Team | Reviewed. Hb name and reference added. |
| 5 | 2022-06-29 10:24:21 | The IthaGenes Curation Team | Reviewed. Links added. |
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IthaGenes was last updated on 2024-11-20 13:24:07