Results for the protein: Q14315

Results for the Protein: Q14315

254763419

2318

FLNC

NCBI, UniProt

FLNC_HUMAN RecName: Full=Filamin-C; Short=FLN-C; Short=FLNc; AltName: Full=ABP-280-like protein; AltName: Full=ABP-L; AltName: Full=Actin-binding-like protein; AltName: Full=Filamin-2; AltName: Full=Gamma-filamin

Known Diseases associated with this Protein:
  MYOPATHY, DISTAL, 4
  MYOPATHY, DISTAL, 4 (MPD4)
  MYOPATHY, MYOFIBRILLAR, 5

5

7

3

0

9

Tips:

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Default View: SAC6 - COG5069 CH - pfam00307 CH - cd00014 CH - smart00033 Filamin - pfam00630 IG_FLMN - smart00557	Swiss-Prot Protein: Q14315 Identical to: NP_001449 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	1760	1851
Filamin	pfam00630	9.1e-35	1856	1943
Filamin	pfam00630	3.4e-29	2038	2125
Filamin	pfam00630	2.1e-10	2214	2303
Filamin	pfam00630	1.8e-31	2311	2398
Filamin	pfam00630	3.6e-22	2405	2493
Filamin	pfam00630	2.7e-25	2502	2589
Filamin	pfam00630	9.4e-24	2632	2721
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	7.5e-32	1636	1737
IG_FLMN	smart00557	1.4e-11	1763	1857
IG_FLMN	smart00557	1.2e-44	1859	1949
IG_FLMN	smart00557	9.8e-15	1950	2036
IG_FLMN	smart00557	2.9e-41	2041	2131
IG_FLMN	smart00557	1.1e-11	2204	2309
IG_FLMN	smart00557	1.4e-39	2314	2404
IG_FLMN	smart00557	3.4e-25	2408	2499
IG_FLMN	smart00557	4.1e-34	2505	2595
IG_FLMN	smart00557	4e-33	2635	2725

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_066212	Disease	p.ALA193THR	Myopathy, distal, 4 (MPD4)
Swiss-Prot	VAR_015705	Polymorphism	p.ARG1567GLN	N/A
Swiss-Prot	VAR_015709	Polymorphism	p.ARG2203PRO	N/A
Swiss-Prot	VAR_015706	Polymorphism	p.ASP1580GLY	N/A
Swiss-Prot	VAR_015708	Polymorphism	p.LYS2135ARG	N/A
Swiss-Prot	VAR_015711	Polymorphism	p.LYS2637GLN	N/A
Swiss-Prot	VAR_066213	Disease	p.MET251THR	Myopathy, distal, 4 (MPD4)
Swiss-Prot	VAR_015710	Polymorphism	p.SER2626ASN	N/A
Swiss-Prot	VAR_015707	Polymorphism	p.THR1599ALA	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.TRP2710TER	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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