Results for the protein: NP

Results for the Protein: NP_001165081

284413714

11155

LDB3

NCBI

LIM domain-binding protein 3 isoform 5 [Homo sapiens]

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, DILATED, 1C
  CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION
  LEFT VENTRICULAR NONCOMPACTION 3, INCLUDED
  MYOPATHY, MYOFIBRILLAR, 4

9

2

9

2

0

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Default View: PDZ - smart00228 PDZ_signaling - cd00992 PDZ - pfam00595 PDZ - cd00136 ZM - smart00735 LIM - smart00132 LIM - pfam00412	RefSeq Protein: NP_001165081 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PDZ	cd00136	0.00053	11	81
PDZ	pfam00595	3.7e-18	4	81
LIM	pfam00412	1.8e-11	556	611
LIM	pfam00412	1.3e-15	615	670
LIM	pfam00412	1.7e-11	674	730
PDZ	smart00228	1.6e-19	1	84
ZM	smart00735	5.1e-10	189	214
ZM	smart00735	1.5e-12	263	288
LIM	smart00132	1.1e-12	555	591
LIM	smart00132	2.2e-12	614	650
LIM	smart00132	4.3e-13	673	711

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs45592139	Polymorphism	p.PRO101LEU	N/A
dbSNP	rs3740343	Polymorphism	p.VAL55ILE	N/A
OMIM	605906.0001	Disease	p.ALA147THR	MYOPATHY, MYOFIBRILLAR, 4
OMIM	605906.0002	Disease	p.ALA165VAL	MYOPATHY, MYOFIBRILLAR, 4
OMIM	605906.0003	Disease	p.ARG268CYS	MYOPATHY, MYOFIBRILLAR, 4
OMIM	605906.0007	Disease	p.ASP117ASN	CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION
OMIM	605906.0009	Disease	p.ASP626ASN	CARDIOMYOPATHY, DILATED, 1C\|\|LEFT VENTRICULAR NONCOMPACTION 3, INCLUDED
OMIM	605906.0004	Disease	p.ILE352MET	CARDIOMYOPATHY, DILATED, 1C
OMIM	605906.0008	Disease	p.LYS136MET	CARDIOMYOPATHY, DILATED, 1C
OMIM	605906.0005	Disease	p.SER196LEU	CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION
OMIM	605906.0006	Disease	p.THR213ILE	CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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