Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: O75369
296434507

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:
 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
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 ↕
CHcd000141.3e-3117122
CHcd000144.9e-27140242
SAC6COG50690.000429551
CHpfam003073.1e-2917122
CHpfam003072.7e-28140242
Filaminpfam006302.8e-27251344
Filaminpfam006301.3e-30351443
Filaminpfam006301.8e-24449540
Filaminpfam006301.8e-19546633
Filaminpfam006301.1e-25642733
Filaminpfam006301.8e-27739836
Filaminpfam006302.8e-22842935
Filaminpfam006303.1e-229411031
Filaminpfam006303.3e-3710371124
Filaminpfam006302.8e-2611301219
Filaminpfam006301.2e-2612251319
Filaminpfam006308.3e-2813251412
Filaminpfam006301.4e-3114181508
Filaminpfam006308.6e-2915141605
Filaminpfam006301.9e-3116111701
Filaminpfam006309e-0717281813
Filaminpfam006303.7e-3018181905
Filaminpfam006300.0005919091991
Filaminpfam006304e-2519992086
Filaminpfam006302.2e-0520962182
Filaminpfam006301.6e-3021902277
Filaminpfam006305.7e-2322842372
Filaminpfam006303.5e-2323812468
Filaminpfam006309.1e-2225092598
CHsmart000333.6e-2918120
CHsmart000331.7e-18141237
IG_FLMNsmart005575.3e-36254350
IG_FLMNsmart005577.7e-37354449
IG_FLMNsmart005571.1e-36452546
IG_FLMNsmart005571.2e-26549639
IG_FLMNsmart005574.5e-35645739
IG_FLMNsmart005571.3e-36742842
IG_FLMNsmart005576.6e-30845941
IG_FLMNsmart005571.4e-309441037
IG_FLMNsmart005571.1e-4110401130
IG_FLMNsmart005577.2e-3511331225
IG_FLMNsmart005571.1e-3512281325
IG_FLMNsmart005577e-3813281418
IG_FLMNsmart005571.9e-3914211514
IG_FLMNsmart005578.1e-3215171611
IG_FLMNsmart005571.8e-3616141707
IG_FLMNsmart005576.1e-1017311819
IG_FLMNsmart005578.1e-3918211911
IG_FLMNsmart005577.8e-1219121997
IG_FLMNsmart005571.7e-3420022092
IG_FLMNsmart005571.1e-0921002188
IG_FLMNsmart005571e-3921932283
IG_FLMNsmart005575.8e-2922872378
IG_FLMNsmart005576.9e-2923842474
IG_FLMNsmart005571.1e-2925122602

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs62621997 Polymorphismp.ALA1286GLYN/A
Swiss-ProtVAR_035920Polymorphismp.ALA1534GLYN/A
Swiss-ProtVAR_033072Diseasep.ALA173VALAtelosteogenesis 1 (AO1)
Swiss-ProtVAR_035917Polymorphismp.ARG566GLNN/A
Swiss-ProtVAR_035918Polymorphismp.ASN663LYSN/A
Swiss-ProtVAR_017183Polymorphismp.ASP1157ASNN/A
dbSNPrs17058845 Polymorphismp.GLU1179LYSN/A
Swiss-ProtVAR_033075Diseasep.GLU227LYSLarsen syndrome (LRS)
Swiss-ProtVAR_033083Diseasep.GLY1586ARGLarsen syndrome (LRS)
Swiss-ProtVAR_033087Diseasep.GLY1834ARGLarsen syndrome (LRS)
Swiss-ProtVAR_033080Diseasep.GLY751ARGAtelosteogenesis 3 (AO3)
Swiss-ProtVAR_033079Diseasep.GLY363GLULarsen syndrome (LRS)
Swiss-ProtVAR_033070Diseasep.GLY168SERLarsen syndrome (LRS)
Swiss-ProtVAR_033086Diseasep.GLY1691SERLarsen syndrome (LRS)
Swiss-ProtVAR_033078Diseasep.GLY361SERLarsen syndrome (LRS)
Swiss-ProtVAR_033081Diseasep.LEU1431ARGLarsen syndrome (LRS)
Swiss-ProtVAR_033071Diseasep.LEU171ARGBoomerang dysplasia (BOOMD)
Swiss-ProtVAR_033076Diseasep.LEU234VALLarsen syndrome (LRS)
Swiss-ProtVAR_033074Diseasep.MET202VALAtelosteogenesis 3 (AO3)
Swiss-ProtVAR_033069Diseasep.PHE161CYSLarsen syndrome (LRS)
Swiss-ProtVAR_033085Diseasep.PRO1603LEULarsen syndrome (LRS)
Swiss-ProtVAR_033073Diseasep.SER188PROAtelosteogenesis 1 (AO1)
Swiss-ProtVAR_033077Diseasep.SER235PROBoomerang dysplasia (BOOMD)
Swiss-ProtVAR_035919Polymorphismp.THR703LYSN/A
Swiss-ProtVAR_033084Diseasep.VAL1592ASPLarsen syndrome (LRS)
Swiss-ProtVAR_017182Polymorphismp.VAL1018METN/A
dbSNPrs12632456 Polymorphismp.VAL1471METN/A
OMIM603381.0006 Diseasep.ALA173VALATELOSTEOGENESIS, TYPE I
OMIM603381.0003 Diseasep.ARG1576TERSPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
OMIM603381.0013 Diseasep.ARG1973TERSPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
OMIM603381.0002 Diseasep.ARG818TERSPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
OMIM603381.0011 Diseasep.GLU227LYSLARSEN SYNDROME
OMIM603381.0005 Diseasep.GLY1555ARGLARSEN SYNDROME
OMIM603381.0008 Diseasep.GLY751ARGATELOSTEOGENESIS, TYPE III
OMIM603381.0012 Diseasep.GLY1660SERLARSEN SYNDROME
OMIM603381.0014 Diseasep.GLY1819TERSPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
OMIM603381.0007 Diseasep.MET202VALATELOSTEOGENESIS, TYPE I||ATELOSTEOGENESIS, TYPE III, INCLUDED
OMIM603381.0004 Diseasep.PHE161CYSLARSEN SYNDROME
OMIM603381.0010 Diseasep.SER235PROBOOMERANG DYSPLASIA
OMIM603381.0001 Diseasep.SER2106TERSPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258