Results for the protein: P28062

Results for the Protein: P28062

334302881

5696

PSMB8

NCBI, UniProt

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

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Swiss-Prot Protein: P28062

Identical to: NP_683720

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
proteasome_alpha_typ	cd03750	0.00016	51	269
proteasome_alpha_typ	cd03753	1.4e-06	60	251
proteasome_alpha_typ	cd03755	0.00022	60	248
proteasome_alpha	cd01911	2.4e-06	63	251
proteasome_alpha_arc	cd03756	1.4e-06	66	248
proteasome_beta_type	cd03759	2.4e-05	72	252
proteasome_beta_type	cd03760	3.2e-06	72	254
Ntn_hydrolase	cd01901	7.3e-41	73	234
proteasome_protease_	cd01906	3.4e-63	73	251
proteasome_beta	cd01912	2.4e-84	73	260
proteasome_beta_type	cd03761	7.9e-143	73	260
proteasome_beta_type	cd03762	1.3e-16	73	260
proteasome_beta_type	cd03763	1.5e-13	73	263
proteasome_beta_arch	cd03764	3.2e-34	73	261
proteasome_beta_type	cd03757	2e-07	74	266
proteasome_beta_type	cd03758	2.3e-08	74	261
Proteasome	pfam00227	1.8e-64	69	251

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2071543	Polymorphism	p.GLN49LYS	N/A
Swiss-Prot	VAR_006488	Polymorphism	p.GLY8ARG	N/A
Swiss-Prot	VAR_066449	Disease	p.GLY201VAL	Nakajo syndrome (NKJO)
Swiss-Prot	VAR_065291	Disease	p.THR75MET	Nakajo syndrome (NKJO)
Swiss-Prot	VAR_057046	Polymorphism	p.THR74SER	N/A
OMIM	177046.0004	Disease	p.CYS135TER	AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME
OMIM	177046.0002	Disease	p.GLY197VAL	AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME
OMIM	177046.0003	Disease	p.GLY201VAL	AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME
OMIM	177046.0001	Disease	p.THR75MET	AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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