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Results for the Protein: P35637
544357
FUS

FUS_HUMAN RecName: Full=RNA-binding protein FUS; AltName: Full=75 kDa DNA-pairing protein; AltName: Full=Oncogene FUS; AltName: Full=Oncogene TLS; AltName: Full=POMp75; AltName: Full=Translocated in liposarcoma protein

Known Diseases associated with this Protein:
  AMYOTROPHIC LATERAL SCLEROSIS 6 (ALS6)
  AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
  AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA
  AMYOTROPHIC LATERAL SCLEROSIS 6, AUTOSOMAL RECESSIVE
  TREMOR, HEREDITARY ESSENTIAL 4 (ETM4)
  TREMOR, HEREDITARY ESSENTIAL, 4
  TREMOR, HEREDITARY ESSENTIAL, 4, INCLUDED
31
3
12
0
22
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Default View:

- smart00362
RRM_SF - cd00590
RRM_1 - pfam00076
RRM - smart00360
zf-RanBP - pfam00641
ZnF_RBZ - smart00547


Swiss-Prot Protein: P35637
Identical to: NP_004951
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RRM_SFcd005903.5e-16286368
RRM_1pfam000762.2e-14287365
zf-RanBPpfam006413.8e-13422453
smart003622.4e-23286367
RRMsmart003601.5e-12289367
ZnF_RBZsmart005471.7e-05424450

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_068919Diseasep.ARG216CYSTremor, hereditary essential 4 (ETM4)
Swiss-ProtVAR_068922Diseasep.ARG234CYSAmyotrophic lateral sclerosis 6 (ALS6)
Swiss-ProtVAR_054837Diseasep.ARG244CYSAmyotrophic lateral sclerosis 6 (ALS6)
Swiss-ProtVAR_054843Diseasep.ARG521CYSAmyotrophic lateral sclerosis 6 (ALS6)
Swiss-ProtVAR_054838Diseasep.ARG514GLYAmyotrophic lateral sclerosis 6 (ALS6)
Swiss-ProtVAR_054844Diseasep.ARG521GLYAmyotrophic lateral sclerosis 6 (ALS6)
Swiss-ProtVAR_054846Diseasep.ARG522GLYAmyotrophic lateral sclerosis 6 (ALS6)
Swiss-ProtVAR_054845Diseasep.ARG521HISAmyotrophic lateral sclerosis 6 (ALS6)
Swiss-ProtVAR_054842Diseasep.ARG518LYSAmyotrophic lateral sclerosis 6 (ALS6)
Swiss-ProtVAR_054839Diseasep.ARG514SERAmyotrophic lateral sclerosis 6 (ALS6)
Swiss-ProtVAR_054847Diseasep.ARG524SERAmyotrophic lateral sclerosis 6 (ALS6)
Swiss-ProtVAR_054848Diseasep.ARG524THRAmyotrophic lateral sclerosis 6 (ALS6)
Swiss-ProtVAR_068924Diseasep.GLY507ASPAmyotrophic lateral sclerosis 6 (ALS6)
Swiss-ProtVAR_068921Diseasep.GLY230CYSAmyotrophic lateral sclerosis 6 (ALS6)
Swiss-ProtVAR_054840Diseasep.GLY515CYSAmyotrophic lateral sclerosis 6 (ALS6)
Swiss-ProtVAR_068918Diseasep.GLY191SERAmyotrophic lateral sclerosis 6 (ALS6)
Swiss-ProtVAR_068920Diseasep.GLY225VALAmyotrophic lateral sclerosis 6 (ALS6)
Swiss-ProtVAR_054841Polymorphismp.HIS517GLNN/A
Swiss-ProtVAR_035481Polymorphismp.LYS312GLNN/A
Swiss-ProtVAR_065229Polymorphismp.MET254VALN/A
Swiss-ProtVAR_068923Diseasep.PRO431LEUTremor, hereditary essential 4 (ETM4)
Swiss-ProtVAR_054849Diseasep.PRO525LEUAmyotrophic lateral sclerosis 6 (ALS6)
OMIM137070.0007 Diseasep.ARG216CYSAMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA||TREMOR, HEREDITARY ESSENTIAL, 4, INCLUDED
OMIM137070.0004 Diseasep.ARG521CYSAMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM137070.0002 Diseasep.ARG521GLYAMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM137070.0005 Diseasep.ARG521HISAMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM137070.0003 Diseasep.ARG518LYSAMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM137070.0009 Diseasep.ARG495TERAMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM137070.0008 Diseasep.ARG524TRPAMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM137070.0011 Diseasep.GLN290TERTREMOR, HEREDITARY ESSENTIAL, 4
OMIM137070.0006 Diseasep.GLY507ASPAMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM137070.0010 Diseasep.GLY206SERAMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM137070.0001 Diseasep.HIS517GLNAMYOTROPHIC LATERAL SCLEROSIS 6, AUTOSOMAL RECESSIVE
OMIM137070.0012 Diseasep.PRO431LEUTREMOR, HEREDITARY ESSENTIAL, 4



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