Results for the protein: Q08043

Results for the Protein: Q08043

215273967

89

ACTN3

NCBI, UniProt

ACTN3_HUMAN RecName: Full=Alpha-actinin-3; AltName: Full=Alpha-actinin skeletal muscle isoform 3; AltName: Full=F-actin cross-linking protein

			0 4 0 0 4

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: SAC6 - COG5069 CH - cd00014 CH - pfam00307 CH - smart00033 CAMSAP_CH - pfam11971 Spectrin - pfam00435 SPEC - cd00176 SPEC - smart00150 FRQ1 - COG5126 EFh - cd00051 efhand_Ca_insen - pfam08726	Swiss-Prot Protein: Q08043 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CH	cd00014	1.9e-40	159	264
SPEC	cd00176	1.3e-40	409	636
EFh	cd00051	1.5e-11	764	826
SAC6	COG5069	1.6e-29	38	627
CH	pfam00307	4.5e-32	46	149
CH	pfam00307	1.4e-41	159	264
Spectrin	pfam00435	5.3e-13	288	398
Spectrin	pfam00435	1.1e-30	408	513
Spectrin	pfam00435	3.8e-22	523	634
Spectrin	pfam00435	1.1e-10	644	747
FRQ1	COG5126	0.00041	735	901
CH	smart00033	2.7e-26	47	147
CH	smart00033	1.2e-30	160	259
CAMSAP_CH	pfam11971	2.8e-17	168	244
SPEC	smart00150	2.9e-22	411	512
SPEC	smart00150	1.2e-06	526	633
efhand_Ca_insen	pfam08726	8.2e-36	831	897

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_012705	Polymorphism	p.ARG523GLN	N/A
Swiss-Prot	VAR_047528	Polymorphism	p.CYS628ARG	N/A
Swiss-Prot	VAR_047529	Polymorphism	p.GLN776ARG	N/A
Swiss-Prot	VAR_033488	Polymorphism	p.GLU635ALA	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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