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Results for the Protein: Q9UHD9
124056593

UBQL2_HUMAN RecName: Full=Ubiquilin-2; AltName: Full=Chap1; AltName: Full=DSK2 homolog; AltName: Full=Protein linking IAP with cytoskeleton 2; Short=PLIC-2; Short=hPLIC-2; AltName: Full=Ubiquitin-like product Chap1/Dsk2

Known Diseases associated with this Protein:
  AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
  AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (ALS15)
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4
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1
11
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Default View:

UBQ - smart00213
RAD23_N - cd01805
BAG1_N - cd01812
Scythe_N - cd01809
hPLIC_N - cd01808
Rad60-SLD - pfam11976
Nedd8 - cd01806
parkin_N - cd01798
UBL - cd01769
UBQ - cd00196
ubiquitin - pfam00240
STI1 - smart00727
UBA - pfam00627
UBA - smart00165
UBA - cd00194


Swiss-Prot Protein: Q9UHD9
Identical to: NP_038472
   Default View:













Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RAD23_Ncd018050.0009333107
Nedd8cd018060.0004233107
hPLIC_Ncd018082.9e-4433103
Scythe_Ncd018092.2e-1033104
BAG1_Ncd018120.0004533103
parkin_Ncd017980.0002135103
UBQcd001963.4e-1336103
UBLcd017691.4e-1936103
UBAcd001941e-11582620
ubiquitinpfam002403.5e-1938105
UBApfam006271.3e-07581618
Rad60-SLDpfam119762.4e-0533102
UBQsmart002131.3e-123396
STI1smart007273.9e-11208247
STI1smart007275.8e-12379426
UBAsmart001659.6e-08582619

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_068895Diseasep.ALA283THRAmyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)
Swiss-ProtVAR_068894Polymorphismp.ALA282VALN/A
Swiss-ProtVAR_068896Diseasep.GLN425ARGAmyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)
dbSNPrs17002693 Polymorphismp.LEU235HISN/A
Swiss-ProtVAR_066562Diseasep.PRO497HISAmyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)
Swiss-ProtVAR_066563Diseasep.PRO497SERAmyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)
Swiss-ProtVAR_066565Diseasep.PRO509SERAmyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)
Swiss-ProtVAR_066566Diseasep.PRO525SERAmyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)
Swiss-ProtVAR_068893Polymorphismp.PRO189THRN/A
Swiss-ProtVAR_066564Diseasep.PRO506THRAmyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)
Swiss-ProtVAR_068892Polymorphismp.SER155ASNN/A
Swiss-ProtVAR_068897Diseasep.THR487ILEAmyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)
OMIM300264.0001 Diseasep.PRO497HISAMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM300264.0002 Diseasep.PRO497SERAMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM300264.0004 Diseasep.PRO509SERAMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM300264.0005 Diseasep.PRO525SERAMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM300264.0003 Diseasep.PRO506THRAMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA



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