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TARDBP Lys137 Mutation Details |
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Gene |
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Name |
g.11120A>G (relative to Met1 in NG_008734.1) |
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Alias |
Lys137 |
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Description |
Silent point mutation in coding region |
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From AAA to AAG |
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Genomic |
cDNA |
Protein |
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Observed |
g.11120A>G |
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Predicted |
c.411A>G |
p.K137 |
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Region |
EX4 |
CDS |
RRM1 |
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Phenotype |
No Neurodegenerative Phenotype
(Not pathogenic)
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Function |
No Functional data available |
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Citations |
Kirby J, Neurogenetics 11: 217-225, 2010 |
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Added: October 22, 2010 |
ID: 577 |
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