Results for the protein: P35609

Results for the Protein: P35609

543742

88

ACTN2

NCBI, UniProt

ACTN2_HUMAN RecName: Full=Alpha-actinin-2; AltName: Full=Alpha-actinin skeletal muscle isoform 2; AltName: Full=F-actin cross-linking protein

Known Diseases associated with this Protein:
CARDIOMYOPATHY, DILATED 1AA (CMD1AA)

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1

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Tips:

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Default View: CH - smart00033 CAMSAP_CH - pfam11971 SPEC - smart00150 EFh - smart00054 efhand_Ca_insen - pfam08726	Swiss-Prot Protein: P35609 Identical to: NP_001094 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CH	smart00033	1.1e-29	153	252
CAMSAP_CH	pfam11971	1.5e-14	161	237
SPEC	smart00150	3.2e-24	404	505
SPEC	smart00150	4.4e-13	519	626
EFh	smart00054	0.00032	793	821
efhand_Ca_insen	pfam08726	7.2e-40	824	890

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_054628	Disease	p.GLN9ARG	Cardiomyopathy, dilated 1AA (CMD1AA)
dbSNP	rs35997569	Polymorphism	p.MET604VAL	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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