| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.840 | GeneticVariation | BEFREE | Previously, a SCA5 mutation resulting in a leucine-to-proline substitution (L253P) in the actin-binding domain (ABD) was shown to cause a 1000-fold increase in actin-binding affinity. | 29116080 | 2017 |
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|
0.840 | GeneticVariation | BEFREE | A spinocerebellar ataxia type 5 (SCA5) L253P mutation in the actin-binding domain (ABD) of β-III-spectrin causes high-affinity actin binding and decreased thermal stability in vitro. | 29078305 | 2017 |
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|
0.840 | GeneticVariation | BEFREE | Here we investigated the molecular consequence of a SCA5 missense mutation that results in a L253P substitution in the actin-binding domain (ABD) of β-III-spectrin. | 26883385 | 2016 |
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|
0.840 | GeneticVariation | UNIPROT | Case of infantile onset spinocerebellar ataxia type 5. | 22914369 | 2013 |
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|
0.840 | GeneticVariation | BEFREE | Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi. | 20603325 | 2010 |
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|
0.840 | GeneticVariation | UNIPROT | EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. | 20050888 | 2010 |
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|
0.840 | GeneticVariation | UNIPROT | Spectrin mutations cause spinocerebellar ataxia type 5. | 16429157 | 2006 |
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|
G | 0.840 | CausalMutation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT | Case of infantile onset spinocerebellar ataxia type 5. | 22914369 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. | 20050888 | 2010 |
||||
|
0.800 | GeneticVariation | UNIPROT | Spectrin mutations cause spinocerebellar ataxia type 5. | 16429157 | 2006 |
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|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR |