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
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
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)
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