IthaID: 3254
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs5742909 | HGVS Name: | NG_011502.1:g.4839C>T |
Context nucleotide sequence:
GTCTCCACTTAGTTATCCAGATCCT [C/T] AAAGTGAACATGAAGCTTCAGTTTC (Strand: +)
Also known as: -318 C/T
Comments: SNP (T allele) associated with a higher risk of post-transfusion alloantibody development in sickle cell disease patients from Brazil.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Red blood cell alloimmunisation |
Location
| Chromosome: | 2 |
|---|---|
| Locus: | NG_011502.1 |
| Locus Location: | 4839 |
| Size: | 1 bp |
| Located at: | CTLA4 |
| Specific Location: | Promoter |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Promoter (Transcription) |
| Ethnic Origin: | Brazilian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Oliveira VB, Dezan MR, Gomes FCA, Menosi Gualandro SF, Krieger JE, Pereira AC, Marsiglia JD, Levi JE, Rocha V, Mendrone-Junior A, Sabino EC, Dinardo CL, -318C/T polymorphism of the CTLA-4 gene is an independent risk factor for RBC alloimmunization among sickle cell disease patients., Int. J. Immunogenet. , 2017
Created on 2017-09-06 18:23:04,
Last reviewed on (Show full history)
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