The last 10 mutations that have been submitted to ALSoD

View DetailsNameGeneTypeSeq. OriginalSeq. MutatedAA. OriginalAA. MutatedCodon NumberExon/IntronExon/Intron NumberInstitutionDate Submitted
Select SOD1SubstitutionGCC AlaPro152exon5Umea University21/02/2017 13:09:43
Select SOD1SubstitutionGCC AlaPro4exon1Umea University21/02/2017 13:05:43
Select ALS2SubstitutionAAG LysSTOP1174exon22The Queen Elizabeth University Hospital, Glasgow08/12/2016 12:54:29
Select SOD1SubstitutionTTG LeuPhe84exon4Sir Ganga Ram Hospital04/08/2015 10:46:01
Select TBK1FrameshiftA ThrGln320exon alsod administrator13/04/2015 13:44:23
Select TBK1FrameshiftATT IleLys450exon alsod administrator13/04/2015 13:44:23
Select TBK1FrameshiftTG ValGlu479exon alsod administrator13/04/2015 13:44:23
Select TBK1FrameshiftT TyrSTOP185exon alsod administrator13/04/2015 13:44:23
Select TBK1FrameshiftT ThrTrp77exon alsod administrator13/04/2015 13:44:23
Select TBK1FrameshiftG AlaSTOP417exon alsod administrator13/04/2015 13:44:23

The last 10 patients submitted to ALSoD

InstitutionGenderCountryEthnicityAuthor_YearSite_of_onsetAge_of_onsetGene
University of AucklandFemaleNew ZealandAustralianScotter 2016 MN18limb47C9orf72
University of AucklandFemaleNew ZealandUnknownScotter 2016 MN2limb52C9orf72
Montreal Neurological Institute and Hospital, McGiFemaleCanadaCanadianLeblond 2016bulbar21FUS
Sir Ganga Ram HospitalFemaleIndiaIndianVats 2015limb SOD1
Sir Ganga Ram HospitalMaleIndiaIndianVats 2015limb SOD1
alsod administratorAnonymouSwedenEuropeanFreischmidt 2015unknown TBK1
alsod administratorAnonymouSwedenEuropeanFreischmidt 2015unknown TBK1
alsod administratorAnonymouSwedenEuropeanFreischmidt 2015unknown TBK1
alsod administratorAnonymouSwedenEuropeanFreischmidt 2015unknown TBK1
alsod administratorAnonymouPortugalEuropeanFreischmidt 2015unknown TBK1