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FUS Arg514Gly Mutation Details |
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Gene |
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Name |
g.10895A>G (relative to Met1 in NG_012889.1) |
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Alias |
Arg514Gly |
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Description |
Point mutation in coding region predicting an amino acid substitution |
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From AGG to GGG |
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Genomic |
cDNA |
Protein |
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Observed |
g.15978A>G |
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Predicted |
c.1540A>G |
p.R514G |
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Region |
EX14 |
CDS |
C-Term |
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Phenotype |
Amyotrophic Lateral Sclerosis
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Frequency |
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Function |
No Functional data available |
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Citations |
Vance C, Science 323: 1208-1211, 2009 |
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Added: September 17, 2009 |
ID: 519 |
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