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Results for the Protein: NP_001157789
256222411

filamin-B isoform 1 [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
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Default View:

SAC6 - COG5069
CH - cd00014
CH - pfam00307
CH - smart00033
Filamin - pfam00630
IG_FLMN - smart00557




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
Filaminpfam006301.5e-2414181539
Filaminpfam006308.6e-2915451636
Filaminpfam006301.9e-3116421732
Filaminpfam006309e-0717591844
Filaminpfam006303.7e-3018491936
Filaminpfam006300.0005919402022
Filaminpfam006304e-2520302117
Filaminpfam006302.2e-0521272213
Filaminpfam006301.6e-3022212308
Filaminpfam006305.7e-2323152403
Filaminpfam006303.5e-2324122499
Filaminpfam006309.1e-2225402629
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_FLMNsmart005574.2e-2714211545
IG_FLMNsmart005578.1e-3215481642
IG_FLMNsmart005571.8e-3616451738
IG_FLMNsmart005576.1e-1017621850
IG_FLMNsmart005578.1e-3918521942
IG_FLMNsmart005577.8e-1219432028
IG_FLMNsmart005571.7e-3420332123
IG_FLMNsmart005571.1e-0921312219
IG_FLMNsmart005571e-3922242314
IG_FLMNsmart005575.8e-2923182409
IG_FLMNsmart005576.9e-2924152505
IG_FLMNsmart005571.1e-2925432633

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs62621997 Polymorphismp.ALA1286GLYN/A
dbSNPrs1131356 Polymorphismp.ASP1157ASNN/A
dbSNPrs17058845 Polymorphismp.GLU1179LYSN/A
dbSNPrs12632456 Polymorphismp.VAL1502METN/A
OMIM603381.0006 Diseasep.ALA173VALATELOSTEOGENESIS, TYPE I
OMIM603381.0003 Diseasep.ARG1607TERSPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
OMIM603381.0013 Diseasep.ARG2004TERSPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
OMIM603381.0002 Diseasep.ARG818TERSPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
OMIM603381.0011 Diseasep.GLU227LYSLARSEN SYNDROME
OMIM603381.0005 Diseasep.GLY1586ARGLARSEN SYNDROME
OMIM603381.0008 Diseasep.GLY751ARGATELOSTEOGENESIS, TYPE III
OMIM603381.0012 Diseasep.GLY1691SERLARSEN SYNDROME
OMIM603381.0014 Diseasep.GLY1850TERSPONDYLOCARPOTARSAL 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.SER2137TERSPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME



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