Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95817: Variant p.Glu455Lys

BAG family molecular chaperone regulator 3
Gene: BAG3
Feedback?
Variant information Variant position: help 455
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamate (E) to Lysine (K) at position 455 (E455K, p.Glu455Lys).
Physico-chemical properties: help Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score: help 1
Variant description: help In CMD1HH.
Other resources: help


Sequence information Variant position: help 455
Protein sequence length: help 575
Location on the sequence: help LEQAVDNFEGKKTDKKYLMI E EYLTKELLALDSVDPEGRAD
Residue conservation: help 
Human                         LEQAVDNFEGKKTDKKYLMIEEYLTKELLALDSVDPEGRAD

Mouse                         LEQAVDSFEGKKTDKKYLMIEEYLTKELLALDSVDPEGRAD
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 575 BAG family molecular chaperone regulator 3
Domain 421 – 498 BAG
Cross 445 – 445 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
Cross 445 – 445 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate



Literature citations
A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.
Villard E.; Perret C.; Gary F.; Proust C.; Dilanian G.; Hengstenberg C.; Ruppert V.; Arbustini E.; Wichter T.; Germain M.; Dubourg O.; Tavazzi L.; Aumont M.C.; DeGroote P.; Fauchier L.; Trochu J.N.; Gibelin P.; Aupetit J.F.; Stark K.; Erdmann J.; Hetzer R.; Roberts A.M.; Barton P.J.; Regitz-Zagrosek V.; Aslam U.; Duboscq-Bidot L.; Meyborg M.; Maisch B.; Madeira H.; Waldenstrom A.; Galve E.; Cleland J.G.; Dorent R.; Roizes G.; Zeller T.; Blankenberg S.; Goodall A.H.; Cook S.; Tregouet D.A.; Tiret L.; Isnard R.; Komajda M.; Charron P.; Cambien F.;
Eur. Heart J. 32:1065-1076(2011)
Cited for: VARIANTS GLN-71; LEU-77; PHE-94; SER-115; ARG-151; THR-155; SER-380 AND LEU-407; VARIANTS CMD1HH LYS-455 AND MET-468;
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.