Results for the protein: NP

Results for the Protein: NP_001157791

256222415

2317

FLNB

NCBI

filamin-B isoform 4 [Homo sapiens]

Known Diseases associated with this Protein:
  ATELOSTEOGENESIS, TYPE I
  ATELOSTEOGENESIS, TYPE III
  ATELOSTEOGENESIS, TYPE III, INCLUDED
  BOOMERANG DYSPLASIA
  LARSEN SYNDROME
  SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME

13

4

13

4

0

Tips:

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

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Default View: SAC6 - COG5069 CH - cd00014 CH - pfam00307 CH - smart00033 Filamin - pfam00630 IG_FLMN - smart00557	RefSeq Protein: NP_001157791 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CH	cd00014	4.9e-27	140	242
SAC6	COG5069	0.00042	9	551
CH	pfam00307	3.1e-29	17	122
CH	pfam00307	2.7e-28	140	242
Filamin	pfam00630	2.8e-27	251	344
Filamin	pfam00630	1.3e-30	351	443
Filamin	pfam00630	1.8e-24	449	540
Filamin	pfam00630	1.8e-19	546	633
Filamin	pfam00630	1.1e-25	642	733
Filamin	pfam00630	1.8e-27	739	836
Filamin	pfam00630	2.8e-22	842	935
Filamin	pfam00630	3.1e-22	941	1031
Filamin	pfam00630	3.3e-37	1037	1124
Filamin	pfam00630	2.8e-26	1130	1219
Filamin	pfam00630	1.2e-26	1225	1319
Filamin	pfam00630	8.3e-28	1325	1412
Filamin	pfam00630	1.4e-31	1418	1508
Filamin	pfam00630	8.6e-29	1514	1605
Filamin	pfam00630	1.9e-31	1611	1701
Filamin	pfam00630	9e-07	1704	1789
Filamin	pfam00630	3.7e-30	1794	1881
Filamin	pfam00630	0.00059	1885	1967
Filamin	pfam00630	4e-25	1975	2062
Filamin	pfam00630	2.2e-05	2072	2158
Filamin	pfam00630	1.6e-30	2166	2253
Filamin	pfam00630	5.7e-23	2260	2348
Filamin	pfam00630	3.5e-23	2357	2444
Filamin	pfam00630	9.1e-22	2485	2574
CH	smart00033	3.6e-29	18	120
CH	smart00033	1.7e-18	141	237
IG_FLMN	smart00557	5.3e-36	254	350
IG_FLMN	smart00557	7.7e-37	354	449
IG_FLMN	smart00557	1.1e-36	452	546
IG_FLMN	smart00557	1.2e-26	549	639
IG_FLMN	smart00557	4.5e-35	645	739
IG_FLMN	smart00557	1.3e-36	742	842
IG_FLMN	smart00557	6.6e-30	845	941
IG_FLMN	smart00557	1.4e-30	944	1037
IG_FLMN	smart00557	1.1e-41	1040	1130
IG_FLMN	smart00557	7.2e-35	1133	1225
IG_FLMN	smart00557	1.1e-35	1228	1325
IG_FLMN	smart00557	7e-38	1328	1418
IG_FLMN	smart00557	1.9e-39	1421	1514
IG_FLMN	smart00557	8.1e-32	1517	1611
IG_FLMN	smart00557	1.2e-36	1614	1707
IG_FLMN	smart00557	1.9e-08	1708	1795
IG_FLMN	smart00557	8.1e-39	1797	1887
IG_FLMN	smart00557	7.8e-12	1888	1973
IG_FLMN	smart00557	1.7e-34	1978	2068
IG_FLMN	smart00557	1.1e-09	2076	2164
IG_FLMN	smart00557	1e-39	2169	2259
IG_FLMN	smart00557	5.8e-29	2263	2354
IG_FLMN	smart00557	6.9e-29	2360	2450
IG_FLMN	smart00557	1.1e-29	2488	2578

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs62621997	Polymorphism	p.ALA1286GLY	N/A
dbSNP	rs1131356	Polymorphism	p.ASP1157ASN	N/A
dbSNP	rs17058845	Polymorphism	p.GLU1179LYS	N/A
dbSNP	rs12632456	Polymorphism	p.VAL1471MET	N/A
OMIM	603381.0006	Disease	p.ALA173VAL	ATELOSTEOGENESIS, TYPE I
OMIM	603381.0003	Disease	p.ARG1576TER	SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
OMIM	603381.0013	Disease	p.ARG1949TER	SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
OMIM	603381.0002	Disease	p.ARG818TER	SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
OMIM	603381.0011	Disease	p.GLU227LYS	LARSEN SYNDROME
OMIM	603381.0005	Disease	p.GLY1555ARG	LARSEN SYNDROME
OMIM	603381.0008	Disease	p.GLY751ARG	ATELOSTEOGENESIS, TYPE III
OMIM	603381.0012	Disease	p.GLY1660SER	LARSEN SYNDROME
OMIM	603381.0014	Disease	p.GLY1795TER	SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
OMIM	603381.0007	Disease	p.MET202VAL	ATELOSTEOGENESIS, TYPE I\|\|ATELOSTEOGENESIS, TYPE III, INCLUDED
OMIM	603381.0004	Disease	p.PHE161CYS	LARSEN SYNDROME
OMIM	603381.0010	Disease	p.SER235PRO	BOOMERANG DYSPLASIA
OMIM	603381.0001	Disease	p.SER2082TER	SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME

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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