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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13501: Variant p.Arg107Trp

Sequestosome-1
Gene: SQSTM1
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Variant information Variant position: help 107
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Tryptophan (W) at position 107 (R107W, p.Arg107Trp).
Physico-chemical properties: help Change from large size and basic (R) to large size and aromatic (W)
BLOSUM score: help -3
Variant description: help In FTDALS3.
Other resources: help


Sequence information Variant position: help 107
Protein sequence length: help 440
Location on the sequence: help MSYVKDDIFRIYIKEKKECR R DHRPPCAQEAPRNMVHPNVI
Residue conservation: help 
Human                         MSYVKDDIFRIYIKEKKECRRDHRPPCAQEAPRNMVHPNVI

Mouse                         MSYVKDDIFRIYIKEKKECRREHRPPCAQEAPRNMVHPNVI

Rat                           MSYVKDDIFRIYIKEKKECRREHRPPCAQEA-RSMVHPNVI
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 440 Sequestosome-1
Region 43 – 107 Interaction with PRKCZ and dimerization
Cross 91 – 91 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)



Literature citations
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
van der Zee J.; Van Langenhove T.; Kovacs G.G.; Dillen L.; Deschamps W.; Engelborghs S.; Matej R.; Vandenbulcke M.; Sieben A.; Dermaut B.; Smets K.; Van Damme P.; Merlin C.; Laureys A.; Van Den Broeck M.; Mattheijssens M.; Peeters K.; Benussi L.; Binetti G.; Ghidoni R.; Borroni B.; Padovani A.; Archetti S.; Pastor P.; Razquin C.; Ortega-Cubero S.; Hernandez I.; Boada M.; Ruiz A.; de Mendonca A.; Miltenberger-Miltenyi G.; do Couto F.S.; Sorbi S.; Nacmias B.; Bagnoli S.; Graff C.; Chiang H.H.; Thonberg H.; Perneczky R.; Diehl-Schmid J.; Alexopoulos P.; Frisoni G.B.; Bonvicini C.; Synofzik M.; Maetzler W.; vom Hagen J.M.; Schoels L.; Haack T.B.; Strom T.M.; Prokisch H.; Dols-Icardo O.; Clarimon J.; Lleo A.; Santana I.; Almeida M.R.; Santiago B.; Heneka M.T.; Jessen F.; Ramirez A.; Sanchez-Valle R.; Llado A.; Gelpi E.; Sarafov S.; Tournev I.; Jordanova A.; Parobkova E.; Fabrizi G.M.; Testi S.; Salmon E.; Stroebel T.; Santens P.; Robberecht W.; De Jonghe P.; Martin J.J.; Cras P.; Vandenberghe R.; De Deyn P.P.; Cruts M.; Sleegers K.; Van Broeckhoven C.;
Acta Neuropathol. 128:397-410(2014)
Cited for: INVOLVEMENT IN FTDALS3; VARIANTS FTDALS3 VAL-16; VAL-33; GLU-80; MET-90; TRP-107; ASN-129; CYS-212; VAL-219; PRO-226; LEU-228; THR-232; LYS-238 DEL; ASN-258; CYS-321; GLY-329; LEU-348; LEU-387; LEU-392 AND PRO-430; VARIANTS VAL-17; ARG-103; GLN-107; TYR-108; HIS-110; VAL-117; SER-118; GLY-119; SER-125; CYS-139; ILE-153; LEU-180; HIS-217; GLU-238; 265-SER-ARG-266 DELINS SER-ARG; ASP-274; ILE-278; VAL-308; LYS-319; GLY-334 DEL; THR-349 AND LEU-439;
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.