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Results for the Protein: Q9NZV5
317373588

SELN_HUMAN RecName: Full=Selenoprotein N; Short=SelN; Flags: Precursor

Known Diseases associated with this Protein:
  MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, INCLUDED
  RIGID SPINE MUSCULAR DYSTROPHY 1
  RIGID SPINE MUSCULAR DYSTROPHY 1 (RSMD1)
17
4
7
3
11
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Swiss-Prot Protein: Q9NZV5
Identical to: NP_065184
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_019641Diseasep.ARG466GLNRigid spine muscular dystrophy 1 (RSMD1)
Swiss-ProtVAR_058463Diseasep.ARG469GLNRigid spine muscular dystrophy 1 (RSMD1)
dbSNPrs74060854 Polymorphismp.ARG582GLNN/A
Swiss-ProtVAR_058464Diseasep.ARG469TRPRigid spine muscular dystrophy 1 (RSMD1)
Swiss-ProtVAR_019638Diseasep.ASN340ILERigid spine muscular dystrophy 1 (RSMD1)
dbSNPrs2294228 Polymorphismp.ASN502LYSN/A
dbSNPrs7349185 Polymorphismp.CYS142TYRN/A
Swiss-ProtVAR_019635Diseasep.GLY273GLURigid spine muscular dystrophy 1 (RSMD1)
Swiss-ProtVAR_019637Diseasep.GLY315SERRigid spine muscular dystrophy 1 (RSMD1)
Swiss-ProtVAR_058462Diseasep.GLY463VALRigid spine muscular dystrophy 1 (RSMD1)
Swiss-ProtVAR_019636Diseasep.HIS293ARGRigid spine muscular dystrophy 1 (RSMD1)
Swiss-ProtVAR_019640Diseasep.SEC462GLYRigid spine muscular dystrophy 1 (RSMD1)
Swiss-ProtVAR_038845Polymorphismp.THR137ALAN/A
Swiss-ProtVAR_019639Diseasep.TRP453SERRigid spine muscular dystrophy 1 (RSMD1)
OMIM606210.0004 Diseasep.ARG466GLNRIGID SPINE MUSCULAR DYSTROPHY 1
OMIM606210.0001 Diseasep.GLY273GLURIGID SPINE MUSCULAR DYSTROPHY 1
OMIM606210.0008 Diseasep.GLY315SERRIGID SPINE MUSCULAR DYSTROPHY 1||MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, INCLUDED
OMIM606210.0003 Diseasep.MET1VALRIGID SPINE MUSCULAR DYSTROPHY 1
OMIM606210.0007 Diseasep.SEC462GLYRIGID SPINE MUSCULAR DYSTROPHY 1
OMIM606210.0002 Diseasep.SEC462TERRIGID SPINE MUSCULAR DYSTROPHY 1
OMIM606210.0005 Diseasep.TRP453SERRIGID SPINE MUSCULAR DYSTROPHY 1



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