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Results for the Protein: O75112
83288256

LDB3_HUMAN RecName: Full=LIM domain-binding protein 3; AltName: Full=Protein cypher; AltName: Full=Z-band alternatively spliced PDZ-motif protein

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, DILATED 1C (CMD1C)
  CARDIOMYOPATHY, DILATED, 1C
  CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION
  LEFT VENTRICULAR NONCOMPACTION 3, INCLUDED
  MYOPATHY, MYOFIBRILLAR, 4
12
3
8
2
5
Tips:
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Default View:

PDZ - smart00228
PDZ_signaling - cd00992
PDZ - pfam00595
PDZ - cd00136
ZM - smart00735
LIM - smart00132
LIM - pfam00412


Swiss-Prot Protein: O75112
Identical to: NP_009009
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PDZcd001360.000531181
PDZpfam005953.7e-18481
LIMpfam004121.8e-11551606
LIMpfam004121.3e-15610665
LIMpfam004121.7e-11669725
PDZsmart002281.6e-19184
ZMsmart007355.1e-10189214
LIMsmart001321.1e-12550586
LIMsmart001322.2e-12609645
LIMsmart001324.3e-13668706

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_024013Diseasep.ASP673ASNCardiomyopathy, dilated 1C (CMD1C)
Swiss-ProtVAR_024011Diseasep.ILE345METCardiomyopathy, dilated 1C (CMD1C)
dbSNPrs45592139 Polymorphismp.PRO101LEUN/A
Swiss-ProtVAR_024009Diseasep.SER189LEUCardiomyopathy, dilated 1C (CMD1C)
Swiss-ProtVAR_024010Diseasep.THR206ILECardiomyopathy, dilated 1C (CMD1C)
dbSNPrs3740343 Polymorphismp.VAL55ILEN/A
Swiss-ProtVAR_024012Polymorphismp.VAL635ILEN/A
OMIM605906.0001 Diseasep.ALA147THRMYOPATHY, MYOFIBRILLAR, 4
OMIM605906.0002 Diseasep.ALA165VALMYOPATHY, MYOFIBRILLAR, 4
OMIM605906.0007 Diseasep.ASP117ASNCARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION
OMIM605906.0009 Diseasep.ASP621ASNCARDIOMYOPATHY, DILATED, 1C||LEFT VENTRICULAR NONCOMPACTION 3, INCLUDED
OMIM605906.0004 Diseasep.ILE284METCARDIOMYOPATHY, DILATED, 1C
OMIM605906.0008 Diseasep.LYS136METCARDIOMYOPATHY, DILATED, 1C
OMIM605906.0005 Diseasep.SER196LEUCARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION
OMIM605906.0006 Diseasep.THR213ILECARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION



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