Results for the protein: NP

Results for the Protein: NP_001120959

188595687

2318

FLNC

NCBI

filamin-C isoform b [Homo sapiens]

Known Diseases associated with this Protein:
MYOPATHY, DISTAL, 4
MYOPATHY, MYOFIBRILLAR, 5

3

1

3

1

0

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 - pfam00307 CH - cd00014 CH - smart00033 Filamin - pfam00630 IG_FLMN - smart00557	RefSeq Protein: NP_001120959 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CH	cd00014	1.4e-29	160	262
SAC6	COG5069	0.00061	29	584
CH	pfam00307	7.2e-29	37	142
CH	pfam00307	3.7e-30	160	262
Filamin	pfam00630	1.8e-29	272	365
Filamin	pfam00630	1.6e-30	372	465
Filamin	pfam00630	8e-28	471	562
Filamin	pfam00630	3.3e-26	568	655
Filamin	pfam00630	6.8e-34	664	755
Filamin	pfam00630	3.2e-28	761	858
Filamin	pfam00630	1.1e-23	864	957
Filamin	pfam00630	1.8e-23	963	1053
Filamin	pfam00630	7.5e-34	1059	1146
Filamin	pfam00630	9.8e-32	1152	1241
Filamin	pfam00630	1.7e-27	1247	1341
Filamin	pfam00630	1.8e-32	1347	1434
Filamin	pfam00630	2.1e-32	1440	1530
Filamin	pfam00630	3.3e-32	1536	1627
Filamin	pfam00630	7.5e-33	1633	1731
Filamin	pfam00630	1.1e-05	1741	1818
Filamin	pfam00630	9.1e-35	1823	1910
Filamin	pfam00630	3.4e-29	2005	2092
Filamin	pfam00630	2.1e-10	2181	2270
Filamin	pfam00630	1.8e-31	2278	2365
Filamin	pfam00630	3.6e-22	2372	2460
Filamin	pfam00630	2.7e-25	2469	2556
Filamin	pfam00630	9.4e-24	2599	2688
CH	smart00033	1.8e-28	38	140
CH	smart00033	1.1e-22	161	257
IG_FLMN	smart00557	5.2e-40	275	371
IG_FLMN	smart00557	1.1e-35	375	471
IG_FLMN	smart00557	2.7e-38	474	568
IG_FLMN	smart00557	8.8e-35	571	661
IG_FLMN	smart00557	2e-42	667	761
IG_FLMN	smart00557	1e-41	764	864
IG_FLMN	smart00557	5.8e-36	867	963
IG_FLMN	smart00557	4.2e-31	966	1060
IG_FLMN	smart00557	8.4e-40	1062	1152
IG_FLMN	smart00557	7e-41	1155	1247
IG_FLMN	smart00557	3.7e-36	1250	1347
IG_FLMN	smart00557	1.6e-41	1350	1440
IG_FLMN	smart00557	5.2e-42	1443	1536
IG_FLMN	smart00557	1.5e-41	1539	1633
IG_FLMN	smart00557	4.8e-33	1636	1737
IG_FLMN	smart00557	9e-11	1740	1824
IG_FLMN	smart00557	1.2e-44	1826	1916
IG_FLMN	smart00557	9.8e-15	1917	2003
IG_FLMN	smart00557	2.9e-41	2008	2098
IG_FLMN	smart00557	1.1e-11	2171	2276
IG_FLMN	smart00557	1.4e-39	2281	2371
IG_FLMN	smart00557	3.4e-25	2375	2466
IG_FLMN	smart00557	4.1e-34	2472	2562
IG_FLMN	smart00557	4e-33	2602	2692

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2291569	Polymorphism	p.ARG1567GLN	N/A
OMIM	102565.0004	Disease	p.ALA193THR	MYOPATHY, DISTAL, 4
OMIM	102565.0003	Disease	p.MET251THR	MYOPATHY, DISTAL, 4
OMIM	102565.0001	Disease	p.TRP2677TER	MYOPATHY, MYOFIBRILLAR, 5

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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