Results for the protein: O75369

Results for the Protein: O75369

296434507

2317

FLNB

NCBI, UniProt

FLNB_HUMAN RecName: Full=Filamin-B; Short=FLN-B; AltName: Full=ABP-278; AltName: Full=ABP-280 homolog; AltName: Full=Actin-binding-like protein; AltName: Full=Beta-filamin; AltName: Full=Filamin homolog 1; Short=Fh1; AltName: Full=Filamin-3; AltName: Full=Thyroid autoantigen; AltName: Full=Truncated actin-binding protein; Short=Truncated ABP

Known Diseases associated with this Protein:
  ATELOSTEOGENESIS 1 (AO1)
  ATELOSTEOGENESIS 3 (AO3)
  ATELOSTEOGENESIS, TYPE I
  ATELOSTEOGENESIS, TYPE III
  ATELOSTEOGENESIS, TYPE III, INCLUDED
  BOOMERANG DYSPLASIA
  BOOMERANG DYSPLASIA (BOOMD)
  LARSEN SYNDROME
  LARSEN SYNDROME (LRS)
  SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME

31

9

13

3

24

Tips:

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Default View: SAC6 - COG5069 CH - cd00014 CH - pfam00307 CH - smart00033 Filamin - pfam00630 IG_FLMN - smart00557	Swiss-Prot Protein: O75369 Identical to: NP_001448 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	1728	1813
Filamin	pfam00630	3.7e-30	1818	1905
Filamin	pfam00630	0.00059	1909	1991
Filamin	pfam00630	4e-25	1999	2086
Filamin	pfam00630	2.2e-05	2096	2182
Filamin	pfam00630	1.6e-30	2190	2277
Filamin	pfam00630	5.7e-23	2284	2372
Filamin	pfam00630	3.5e-23	2381	2468
Filamin	pfam00630	9.1e-22	2509	2598
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	1.8e-36	1614	1707
IG_FLMN	smart00557	6.1e-10	1731	1819
IG_FLMN	smart00557	8.1e-39	1821	1911
IG_FLMN	smart00557	7.8e-12	1912	1997
IG_FLMN	smart00557	1.7e-34	2002	2092
IG_FLMN	smart00557	1.1e-09	2100	2188
IG_FLMN	smart00557	1e-39	2193	2283
IG_FLMN	smart00557	5.8e-29	2287	2378
IG_FLMN	smart00557	6.9e-29	2384	2474
IG_FLMN	smart00557	1.1e-29	2512	2602

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs62621997	Polymorphism	p.ALA1286GLY	N/A
Swiss-Prot	VAR_035920	Polymorphism	p.ALA1534GLY	N/A
Swiss-Prot	VAR_033072	Disease	p.ALA173VAL	Atelosteogenesis 1 (AO1)
Swiss-Prot	VAR_035917	Polymorphism	p.ARG566GLN	N/A
Swiss-Prot	VAR_035918	Polymorphism	p.ASN663LYS	N/A
Swiss-Prot	VAR_017183	Polymorphism	p.ASP1157ASN	N/A
dbSNP	rs17058845	Polymorphism	p.GLU1179LYS	N/A
Swiss-Prot	VAR_033075	Disease	p.GLU227LYS	Larsen syndrome (LRS)
Swiss-Prot	VAR_033083	Disease	p.GLY1586ARG	Larsen syndrome (LRS)
Swiss-Prot	VAR_033087	Disease	p.GLY1834ARG	Larsen syndrome (LRS)
Swiss-Prot	VAR_033080	Disease	p.GLY751ARG	Atelosteogenesis 3 (AO3)
Swiss-Prot	VAR_033079	Disease	p.GLY363GLU	Larsen syndrome (LRS)
Swiss-Prot	VAR_033070	Disease	p.GLY168SER	Larsen syndrome (LRS)
Swiss-Prot	VAR_033086	Disease	p.GLY1691SER	Larsen syndrome (LRS)
Swiss-Prot	VAR_033078	Disease	p.GLY361SER	Larsen syndrome (LRS)
Swiss-Prot	VAR_033081	Disease	p.LEU1431ARG	Larsen syndrome (LRS)
Swiss-Prot	VAR_033071	Disease	p.LEU171ARG	Boomerang dysplasia (BOOMD)
Swiss-Prot	VAR_033076	Disease	p.LEU234VAL	Larsen syndrome (LRS)
Swiss-Prot	VAR_033074	Disease	p.MET202VAL	Atelosteogenesis 3 (AO3)
Swiss-Prot	VAR_033069	Disease	p.PHE161CYS	Larsen syndrome (LRS)
Swiss-Prot	VAR_033085	Disease	p.PRO1603LEU	Larsen syndrome (LRS)
Swiss-Prot	VAR_033073	Disease	p.SER188PRO	Atelosteogenesis 1 (AO1)
Swiss-Prot	VAR_033077	Disease	p.SER235PRO	Boomerang dysplasia (BOOMD)
Swiss-Prot	VAR_035919	Polymorphism	p.THR703LYS	N/A
Swiss-Prot	VAR_033084	Disease	p.VAL1592ASP	Larsen syndrome (LRS)
Swiss-Prot	VAR_017182	Polymorphism	p.VAL1018MET	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.ARG1973TER	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.GLY1819TER	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.SER2106TER	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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