Sequence information
Variant position: 165 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 219 The length of the canonical sequence.
Location on the sequence:
AIGGSGSTFIYGYVDAAYKP
G MSPEECRRFTTDAIALAMSR
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 AIGGSGSTFIYGYVDAAYKPG MSPEECRRFTTDAIALAMSR
Mouse TIGGSGSSYIYGYVDAAYKPG MTPEECRRFTTNAITLAMNR
Rat AIGGSGSTYIYGYVDAAYKPG MTPEECRRFTTDAITLAMNR
Bovine AIGGSGSTYIYGYVDAAYKPG MSPEECRRFTTNAIALAMKR
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
21 – 219
Proteasome subunit beta type-9
Literature citations
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
Brehm A.; Liu Y.; Sheikh A.; Marrero B.; Omoyinmi E.; Zhou Q.; Montealegre G.; Biancotto A.; Reinhardt A.; Almeida de Jesus A.; Pelletier M.; Tsai W.L.; Remmers E.F.; Kardava L.; Hill S.; Kim H.; Lachmann H.J.; Megarbane A.; Chae J.J.; Brady J.; Castillo R.D.; Brown D.; Casano A.V.; Gao L.; Chapelle D.; Huang Y.; Stone D.; Chen Y.; Sotzny F.; Lee C.C.; Kastner D.L.; Torrelo A.; Zlotogorski A.; Moir S.; Gadina M.; McCoy P.; Wesley R.; Rother K.; Hildebrand P.W.; Brogan P.; Krueger E.; Aksentijevich I.; Goldbach-Mansky R.;
J. Clin. Invest. 125:4196-4211(2015)
Cited for: VARIANT PRAAS3 ASP-165; CHARACTERIZATION OF VARIANT PRAAS3 ASP-165;
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.