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Results for the Protein: Q16637
2498924

SMN_HUMAN RecName: Full=Survival motor neuron protein; AltName: Full=Component of gems 1; AltName: Full=Gemin-1

Known Diseases associated with this Protein:
  SPINAL MUSCULAR ATROPHY 1 (SMA1)
  SPINAL MUSCULAR ATROPHY 2 (SMA2)
  SPINAL MUSCULAR ATROPHY 3 (SMA3)
  SPINAL MUSCULAR ATROPHY, MODIFIER OF
  SPINAL MUSCULAR ATROPHY, TYPE I
  SPINAL MUSCULAR ATROPHY, TYPE II
  SPINAL MUSCULAR ATROPHY, TYPE II, INCLUDED
  SPINAL MUSCULAR ATROPHY, TYPE III
  SPINAL MUSCULAR ATROPHY, TYPE III, INCLUDED
31
0
16
0
15
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Default View:

SMN - pfam06003
TUDOR - smart00333
TUDOR - cd04508


Swiss-Prot Protein: Q16637
Identical to: NP_059107, NP_000335
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TUDORcd045083.6e-1295143
SMNpfam060035e-12826293
TUDORsmart003335e-1790148

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_034806Diseasep.ALA111GLYSpinal muscular atrophy 2 (SMA2)
Swiss-ProtVAR_005615Diseasep.ALA2GLYSpinal muscular atrophy 3 (SMA3)
Swiss-ProtVAR_034803Diseasep.ASP30ASNSpinal muscular atrophy 2 (SMA2)
Swiss-ProtVAR_034804Diseasep.ASP44VALSpinal muscular atrophy 3 (SMA3)
Swiss-ProtVAR_034808Diseasep.GLN136GLUSpinal muscular atrophy 1 (SMA1)
Swiss-ProtVAR_034805Diseasep.GLY95ARGSpinal muscular atrophy 3 (SMA3)
Swiss-ProtVAR_007990Diseasep.GLY279CYSSpinal muscular atrophy 3 (SMA3)
Swiss-ProtVAR_005619Diseasep.GLY275SERSpinal muscular atrophy 3 (SMA3)
Swiss-ProtVAR_005620Diseasep.GLY279VALSpinal muscular atrophy 1 (SMA1)
Swiss-ProtVAR_034807Diseasep.ILE116PHESpinal muscular atrophy 1 (SMA1)
Swiss-ProtVAR_010051Diseasep.PRO245LEUSpinal muscular atrophy 3 (SMA3)
Swiss-ProtVAR_034809Diseasep.SER262GLYSpinal muscular atrophy 3 (SMA3)
Swiss-ProtVAR_005616Diseasep.SER262ILESpinal muscular atrophy 3 (SMA3)
Swiss-ProtVAR_005618Diseasep.THR274ILESpinal muscular atrophy 3 (SMA3)
Swiss-ProtVAR_005617Diseasep.TYR272CYSSpinal muscular atrophy 1 (SMA1)
OMIM600354.0015 Diseasep.ALA111GLYSPINAL MUSCULAR ATROPHY, TYPE I||SPINAL MUSCULAR ATROPHY, TYPE II, INCLUDED
OMIM600354.0006 Diseasep.ALA2GLYSPINAL MUSCULAR ATROPHY, TYPE II||SPINAL MUSCULAR ATROPHY, TYPE III, INCLUDED
OMIM600354.0012 Diseasep.ASP30ASNSPINAL MUSCULAR ATROPHY, TYPE II
OMIM600354.0013 Diseasep.ASP44VALSPINAL MUSCULAR ATROPHY, TYPE III
OMIM600354.0018 Diseasep.GLN136GLUSPINAL MUSCULAR ATROPHY, TYPE I
OMIM600354.0014 Diseasep.GLY95ARGSPINAL MUSCULAR ATROPHY, TYPE III
OMIM600354.0005 Diseasep.GLY279VALSPINAL MUSCULAR ATROPHY, TYPE I
OMIM600354.0017 Diseasep.ILE116PHESPINAL MUSCULAR ATROPHY, TYPE I
OMIM600354.0016 Diseasep.SER262GLYSPINAL MUSCULAR ATROPHY, TYPE III
OMIM600354.0003 Diseasep.SER262ILESPINAL MUSCULAR ATROPHY, TYPE III
OMIM600354.0002 Diseasep.THR274ILESPINAL MUSCULAR ATROPHY, TYPE II||SPINAL MUSCULAR ATROPHY, TYPE III, INCLUDED
OMIM600354.0010 Diseasep.TRP102TERSPINAL MUSCULAR ATROPHY, TYPE II||SPINAL MUSCULAR ATROPHY, TYPE III, INCLUDED
OMIM600354.0019 Diseasep.TYR130CYSSPINAL MUSCULAR ATROPHY, TYPE III
OMIM600354.0004 Diseasep.TYR272CYSSPINAL MUSCULAR ATROPHY, TYPE I
OMIM600354.0020 Diseasep.TYR130HISSPINAL MUSCULAR ATROPHY, TYPE III
OMIM601627.0001 Diseasep.GLY287ARGSPINAL MUSCULAR ATROPHY, MODIFIER OF



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