Results for the protein: Q5VU43

Results for the Protein: Q5VU43

74747041

9659

PDE4DIP

NCBI, UniProt

MYOME_HUMAN RecName: Full=Myomegalin; AltName: Full=Cardiomyopathy-associated protein 2; AltName: Full=Phosphodiesterase 4D-interacting protein

			0 17 0 0 17

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Default View: Microtub_assoc - pfam07989 DUF1220 - pfam06758	Swiss-Prot Protein: Q5VU43 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DUF1220	pfam06758	0.0003	1556	1624

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_051214	Polymorphism	p.ALA1742SER	N/A
Swiss-Prot	VAR_051211	Polymorphism	p.ALA1066THR	N/A
Swiss-Prot	VAR_036630	Polymorphism	p.ALA167THR	N/A
Swiss-Prot	VAR_051208	Polymorphism	p.ARG681HIS	N/A
Swiss-Prot	VAR_036628	Polymorphism	p.ARG25LEU	N/A
Swiss-Prot	VAR_051204	Polymorphism	p.ARG171LYS	N/A
Swiss-Prot	VAR_036627	Polymorphism	p.ASN13SER	N/A
Swiss-Prot	VAR_056952	Polymorphism	p.ASN150SER	N/A
Swiss-Prot	VAR_051209	Polymorphism	p.CYS708ARG	N/A
Swiss-Prot	VAR_051205	Polymorphism	p.GLU391ALA	N/A
Swiss-Prot	VAR_051206	Polymorphism	p.GLU410VAL	N/A
Swiss-Prot	VAR_051207	Polymorphism	p.HIS482ARG	N/A
Swiss-Prot	VAR_036629	Polymorphism	p.ILE49THR	N/A
Swiss-Prot	VAR_051212	Polymorphism	p.LYS1359GLU	N/A
Swiss-Prot	VAR_056951	Polymorphism	p.LYS143GLU	N/A
Swiss-Prot	VAR_051210	Polymorphism	p.PHE1013ILE	N/A
Swiss-Prot	VAR_051213	Polymorphism	p.VAL1736GLU	N/A

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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