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Results for the Protein: P17405
224471897

ASM_HUMAN RecName: Full=Sphingomyelin phosphodiesterase; AltName: Full=Acid sphingomyelinase; Short=aSMase; Flags: Precursor

Known Diseases associated with this Protein:
  NIEMANN-PICK DISEASE A (NPDA)
  NIEMANN-PICK DISEASE B (NPDB)
80
12
0
0
92
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Default View:

SapB - smart00741
Metallophos - pfam00149
MPP_ASMase - cd00842
MPP_superfamily - cd00838


Swiss-Prot Protein: P17405
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MPP_superfamilycd008381.8e-17202494
Metallophospfam001495.6e-42199461
SapBsmart007413e-0887165

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_060899Diseasep.ALA357ASPNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_068439Diseasep.ALA451ASPNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060916Diseasep.ALA482GLUNiemann-Pick disease A (NPDA)
Swiss-ProtVAR_060878Diseasep.ALA196PRONiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060891Diseasep.ALA281THRNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060885Polymorphismp.ALA241VALN/A
Swiss-ProtVAR_060905Diseasep.ALA413VALNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060911Diseasep.ALA452VALNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060917Diseasep.ALA485VALNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060879Diseasep.ARG200CYSNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060882Diseasep.ARG228CYSNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060921Diseasep.ARG496CYSNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060894Diseasep.ARG294GLNNiemann-Pick disease A (NPDA)
Swiss-ProtVAR_060883Polymorphismp.ARG228HISN/A
Swiss-ProtVAR_060892Diseasep.ARG289HISNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060901Diseasep.ARG376HISNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060922Diseasep.ARG496HISNiemann-Pick disease A (NPDA)
Swiss-ProtVAR_060932Diseasep.ARG600HISNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060902Diseasep.ARG376LEUNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_005066Diseasep.ARG496LEUNiemann-Pick disease A (NPDA)
Swiss-ProtVAR_060933Diseasep.ARG600PRONiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060914Diseasep.ARG474TRPNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_005062Diseasep.ASN383SERNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_068440Diseasep.ASN520SERNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_005063Diseasep.ASN389THRNiemann-Pick disease A (NPDA)
Swiss-ProtVAR_060890Polymorphismp.ASP278ALAN/A
Swiss-ProtVAR_060889Polymorphismp.ASP251GLUN/A
Swiss-ProtVAR_068436Diseasep.ASP251HISNiemann-Pick disease A (NPDA)
Swiss-ProtVAR_060929Diseasep.ASP563TYRNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060870Diseasep.ASP49VALNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_011387Diseasep.CYS157ARGNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060907Diseasep.CYS431ARGNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060871Diseasep.CYS92TRPNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_068441Diseasep.GLN523HISNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060893Polymorphismp.GLN292LYSN/A
Swiss-ProtVAR_005059Diseasep.GLU246GLNNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060888Diseasep.GLU246LYSNiemann-Pick disease A (NPDA)
Swiss-ProtVAR_060925Diseasep.GLU515VALNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060875Diseasep.GLY166ARGNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_005058Diseasep.GLY242ARGNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_054644Polymorphismp.GLY506ARGN/A
Swiss-ProtVAR_060884Diseasep.GLY232ASPNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060912Diseasep.GLY456ASPNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060887Diseasep.GLY245SERNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060920Diseasep.GLY494SERNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_005067Diseasep.GLY577SERNiemann-Pick disease A (NPDA)
Swiss-ProtVAR_060906Diseasep.HIS421ARGNiemann-Pick disease A (NPDA)
Swiss-ProtVAR_068438Diseasep.HIS425ARGNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060924Diseasep.HIS514GLNNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_015288Diseasep.HIS319TYRNiemann-Pick disease A (NPDA)
Swiss-ProtVAR_015290Diseasep.HIS421TYRNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060876Diseasep.ILE176ASNNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060880Diseasep.LEU225METNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060872Diseasep.LEU103PRONiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060874Diseasep.LEU137PRONiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060881Diseasep.LEU225PRONiemann-Pick disease B (NPDB)
Swiss-ProtVAR_005060Diseasep.LEU302PRONiemann-Pick disease A (NPDA)
Swiss-ProtVAR_060898Polymorphismp.LEU341PRON/A
Swiss-ProtVAR_060908Diseasep.LEU432PRONiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060910Diseasep.LEU450PRONiemann-Pick disease A (NPDA)
Swiss-ProtVAR_060928Diseasep.LEU549PRONiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060930Diseasep.LYS576ASNNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_005061Diseasep.MET382ILENiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060915Diseasep.PHE480LEUNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_015291Diseasep.PHE463SERNiemann-Pick disease A (NPDA)
Swiss-ProtVAR_060896Diseasep.PRO323ALANiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060897Diseasep.PRO330ARGNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060877Polymorphismp.PRO184LEUN/A
Swiss-ProtVAR_015292Diseasep.PRO475LEUNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_015289Diseasep.PRO371SERNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_015287Diseasep.SER248ARGNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_005065Diseasep.SER436ARGNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060923Polymorphismp.SER505GLYN/A
Swiss-ProtVAR_060903Diseasep.SER379PRONiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060918Diseasep.THR486ALANiemann-Pick disease B (NPDB)
Swiss-ProtVAR_054643Polymorphismp.THR322ILEN/A
Swiss-ProtVAR_068435Diseasep.TRP209ARGNiemann-Pick disease A (NPDA)
Swiss-ProtVAR_060927Diseasep.TRP533ARGNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060886Diseasep.TRP244CYSNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060909Diseasep.TRP435CYSNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_005064Diseasep.TRP391GLYNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060919Diseasep.TYR488ASNNiemann-Pick disease B (NPDB)
Swiss-ProtVAR_060900Diseasep.TYR367CYSNiemann-Pick disease A (NPDA)
Swiss-ProtVAR_011388Diseasep.TYR446CYSNiemann-Pick disease A (NPDA)
Swiss-ProtVAR_060926Diseasep.TYR517CYSNiemann-Pick disease A (NPDA)
Swiss-ProtVAR_060895Diseasep.TYR313HISNiemann-Pick disease A (NPDA)
Swiss-ProtVAR_015293Diseasep.TYR537HISNiemann-Pick disease A (NPDA)
Swiss-ProtVAR_060913Diseasep.TYR467SERNiemann-Pick disease A (NPDA)
Swiss-ProtVAR_060873Diseasep.VAL130ALANiemann-Pick disease B (NPDB)
Swiss-ProtVAR_038191Polymorphismp.VAL36ALAN/A
Swiss-ProtVAR_054642Polymorphismp.VAL316GLUN/A
Swiss-ProtVAR_068437Diseasep.VAL312METNiemann-Pick disease B (NPDB)



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