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Results for the Protein: P17661
6686280
DES

DESM_HUMAN RecName: Full=Desmin

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, DILATED, 1I
  MYOPATHY, MYOFIBRILLAR, 1
  MYOPATHY, MYOFIBRILLAR, 1 (MFM1)
  NEUROGENIC SCAPULOPERONEAL SYNDROME KAESER TYPE (KAESER SYNDROME)
  SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE
40
2
11
0
31
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Swiss-Prot Protein: P17661
Identical to: NP_001918
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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_007900Diseasep.ALA337PROMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_042456Diseasep.ALA357PROMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_007901Diseasep.ALA360PROMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_042451Polymorphismp.ALA213VALN/A
Swiss-ProtVAR_042454Diseasep.ARG350PRONeurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome)
Swiss-ProtVAR_042455Diseasep.ARG355PROMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_042458Diseasep.ARG406TRPMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_042462Diseasep.ARG454TRPMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_042453Diseasep.ASN342ASPMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_007902Diseasep.ASN393ILEMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_069191Diseasep.ASN116SERMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_067210Diseasep.ASP399TYRMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_018772Diseasep.GLN389PROMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_042452Diseasep.GLU245ASPMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_067211Diseasep.GLU401LYSMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_018773Diseasep.ILE451METMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_067209Diseasep.LEU338ARGMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_009189Diseasep.LEU345PROMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_042457Diseasep.LEU370PROMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_018771Diseasep.LEU385PROMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_069192Polymorphismp.LYS241GLUN/A
Swiss-ProtVAR_042460Diseasep.LYS449METMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_042461Diseasep.LYS449THRMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_069074Diseasep.PRO419SERMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_042448Diseasep.SER2ILEMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_042463Diseasep.SER460ILEMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_067208Diseasep.SER13PHEMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_042449Diseasep.SER46PHEMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_067207Diseasep.SER7PHEMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_042450Diseasep.SER46TYRMyopathy, myofibrillar, 1 (MFM1)
Swiss-ProtVAR_042459Diseasep.THR442ILEMyopathy, myofibrillar, 1 (MFM1)
OMIM125660.0001 Diseasep.ALA337PROMYOPATHY, MYOFIBRILLAR, 1
OMIM125660.0002 Diseasep.ALA360PROMYOPATHY, MYOFIBRILLAR, 1
OMIM125660.0016 Diseasep.ARG350PROSCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE
OMIM125660.0007 Diseasep.ARG406TRPMYOPATHY, MYOFIBRILLAR, 1
OMIM125660.0003 Diseasep.ASN393ILEMYOPATHY, MYOFIBRILLAR, 1
OMIM125660.0011 Diseasep.GLN389PROMYOPATHY, MYOFIBRILLAR, 1
OMIM125660.0005 Diseasep.ILE451METCARDIOMYOPATHY, DILATED, 1I
OMIM125660.0006 Diseasep.LEU345PROMYOPATHY, MYOFIBRILLAR, 1
OMIM125660.0010 Diseasep.LEU385PROMYOPATHY, MYOFIBRILLAR, 1
OMIM125660.0017 Diseasep.PRO419SERMYOPATHY, MYOFIBRILLAR, 1
OMIM125660.0015 Diseasep.THR442ILEMYOPATHY, MYOFIBRILLAR, 1



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