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Results for the Protein: P28062
334302881

PSB8_HUMAN RecName: Full=Proteasome subunit beta type-8; AltName: Full=Low molecular mass protein 7; AltName: Full=Macropain subunit C13; AltName: Full=Multicatalytic endopeptidase complex subunit C13; AltName: Full=Proteasome component C13; AltName: Full=Proteasome subunit beta-5i; AltName: Full=Really interesting new gene 10 protein; Flags: Precursor

Known Diseases associated with this Protein:
  AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME
  NAKAJO SYNDROME (NKJO)
6
3
4
1
4
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

PRE1 - COG0638
proteasome_alpha_typ - cd03750
proteasome_alpha_typ - cd03755
proteasome_alpha_typ - cd03753
proteasome_alpha - cd01911
proteasome_alpha_arc - cd03756
Proteasome - pfam00227
proteasome_beta_type - cd03759
proteasome_beta_type - cd03760
proteasome_beta_type - cd03763
proteasome_beta_type - cd03762
proteasome_beta_arch - cd03764
Ntn_hydrolase - cd01901
proteasome_beta_type - cd03761
proteasome_beta - cd01912
proteasome_protease_ - cd01906
proteasome_beta_type - cd03757
proteasome_beta_type - cd03758


Swiss-Prot Protein: P28062
Identical to: NP_683720
   Default View:




















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PRE1COG06382.8e-5746275
proteasome_alpha_typcd037500.0001651269
proteasome_alpha_typcd037531.4e-0660251
proteasome_alpha_typcd037550.0002260248
proteasome_alphacd019112.4e-0663251
proteasome_alpha_arccd037561.4e-0666248
proteasome_beta_typecd037592.4e-0572252
proteasome_beta_typecd037603.2e-0672254
Ntn_hydrolasecd019017.3e-4173234
proteasome_protease_cd019063.4e-6373251
proteasome_betacd019122.4e-8473260
proteasome_beta_typecd037617.9e-14373260
proteasome_beta_typecd037621.3e-1673260
proteasome_beta_typecd037631.5e-1373263
proteasome_beta_archcd037643.2e-3473261
proteasome_beta_typecd037572e-0774266
proteasome_beta_typecd037582.3e-0874261
Proteasomepfam002271.8e-6469251

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2071543 Polymorphismp.GLN49LYSN/A
Swiss-ProtVAR_006488Polymorphismp.GLY8ARGN/A
Swiss-ProtVAR_066449Diseasep.GLY201VALNakajo syndrome (NKJO)
Swiss-ProtVAR_065291Diseasep.THR75METNakajo syndrome (NKJO)
Swiss-ProtVAR_057046Polymorphismp.THR74SERN/A
OMIM177046.0004 Diseasep.CYS135TERAUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME
OMIM177046.0002 Diseasep.GLY197VALAUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME
OMIM177046.0003 Diseasep.GLY201VALAUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME
OMIM177046.0001 Diseasep.THR75METAUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME



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