Sequence information
Variant position: 201 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 276 The length of the canonical sequence.
Location on the sequence:
PGLYYVDEHGTRLSGNMFST
G SGNTYAYGVMDSGYRPNLSP
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human PGLYYVDEHGTRLSGNMFSTG SGNTYAYGVMDSGYRPNLSP
PGLYYVDQNGTRLSGNMFSTG SGSTYAYGVMDSGYQPSLSP
Mouse PGLYYVDDNGTRLSGQMFSTG SGNTYAYGVMDSGYRQDLSP
Rat PGLYYVDDNGTRLSGQMFSTG SGNTYAYGVMDSGYRQDLSP
Bovine PGLYYVDENGTRLSGNMFSTG SGNSHAYGVMDSGYRPDLSI
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
73 – 276
Proteasome subunit beta type-8
Beta strand
196 – 201
Literature citations
A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans.
Kitamura A.; Maekawa Y.; Uehara H.; Izumi K.; Kawachi I.; Nishizawa M.; Toyoshima Y.; Takahashi H.; Standley D.M.; Tanaka K.; Hamazaki J.; Murata S.; Obara K.; Toyoshima I.; Yasutomo K.;
J. Clin. Invest. 121:4150-4160(2011)
Cited for: FUNCTION IN ADIPOCYTE DIFFERENTIATION; VARIANT PRAAS1 VAL-201; CHARACTERIZATION OF VARIANT PRAAS1 VAL-201;
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.
Arima K.; Kinoshita A.; Mishima H.; Kanazawa N.; Kaneko T.; Mizushima T.; Ichinose K.; Nakamura H.; Tsujino A.; Kawakami A.; Matsunaka M.; Kasagi S.; Kawano S.; Kumagai S.; Ohmura K.; Mimori T.; Hirano M.; Ueno S.; Tanaka K.; Tanaka M.; Toyoshima I.; Sugino H.; Yamakawa A.; Tanaka K.; Niikawa N.; Furukawa F.; Murata S.; Eguchi K.; Ida H.; Yoshiura K.;
Proc. Natl. Acad. Sci. U.S.A. 108:14914-14919(2011)
Cited for: VARIANT PRAAS1 VAL-201; CHARACTERIZATION OF VARIANT PRAAS1 VAL-201;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.