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ALSoD is a joint project of World Federation of Neurology and European Network to Cure ALS
European ALS ConsortiumWorld Federation of Neurology

ALSoD is funded by
ALS AssociationALS Society of CanadaMND AssociationMND Association IcelandGlaxoSmithKlineIngenuity SystemsALS Therapy Alliance
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Last Update
23th May 2013 


Summary Report of Mutation and Patient data in ALSoD

Mean : 45.9545454545455       Median : 50.5       Variance : 241.950216450216       Standard Deviation : 15.5547489999105



GeneFALSSALSMaleFemaleBulbarLimbMean_Age_OnsetN
ALS21007328110
ANG82211610175530
ATXN201046195710
C9orf723734343718535571
CRYM011001671
DAO200102412
DCTN1604215556
FIG4365454559
FUS6516423615624481
LUM033003533
NEFH17460106010
OPTN1091093165119
PFN1320005445
SETX51326180241854
SOD1229371511161624747267
SPG11270131415121627
SQSTM159954105414
TAF15400403504
TARDBP(TDP43)4932522923645487
UBQLN235022130354135
VAPB190210194419
VCP800017498

      
FALSSALSMaleFemaleBulbarLimbOverall Mean AgeTotal
57219140031011461645772

Top 20 most frequent mutations recorded
DetailsGeneMutationPatients
SelectC9orf729pGGGGCC71
SelectSETXLeu389Ser38
SelectFUSArg521His33
SelectSOD1Leu144Phe26
SelectUBQLN2Pro497His19
SelectVAPBPro56Ser18
SelectSOD1Glu21Gly15
SelectSOD1Asp90Ala14
SelectTARDBP(TDP43)Ala382Thr14
SelectSOD1Leu106Val12
SelectATXN2CAGnExpansion10
SelectFUSPro525Leu10
SelectSOD1Gly41Ser10
SelectSOD1Gly10Val9
SelectTARDBP(TDP43)Met337Val9
SelectSOD1Ala4Val8
SelectSOD1Leu126Ser8
SelectSOD1Phe20Cys8
SelectTARDBP(TDP43)Gly348Cys8
SelectUBQLN2Pro497Ser8
© Copyright 1999-2013 King's College London, The Institute of Psychiatry | Rewritten + Version 3.0 by Olubunmi Abel | Project coordinated by Prof Ammar Al-Chalabi