Variant position: 392 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 440 The length of the canonical sequence.
Location on the sequence:
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 EGPTGLKEAALYPHLPPEAD PRLIESLSQMLSMGFSDEGGW
Mouse EGPTGLKEAALYPHLPPEAD PRLIESLSQMLSMGFSDEGGW
Rat EGPTGLKEAALYPHLPPEAD PRLIESLSQMLSMGFSDEGGW
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
2 – 440 Sequestosome-1
389 – 434 UBA
269 – 440 Interaction with NTRK1
398 – 398 L -> V. No effect on polyubiquitin-binding.
406 – 406 F -> V. Loss of polyubiquitin-binding.
409 – 409 E -> K. Decreased activation of NF-kappa-B.
410 – 410 G -> K. Decreased activation of NF-kappa-B.
392 – 402
Structure of the ubiquitin-associated domain of p62 (SQSTM1) and implications for mutations that cause Paget's disease of bone.
Ciani B.; Layfield R.; Cavey J.R.; Sheppard P.W.; Searle M.S.;
J. Biol. Chem. 278:37409-37412(2003)
Cited for: STRUCTURE BY NMR OF 387-436; CHARACTERIZATION OF VARIANT LEU-392; DOMAIN;
Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone.
Laurin N.; Brown J.P.; Morissette J.; Raymond V.;
Am. J. Hum. Genet. 70:1582-1588(2002)
Cited for: VARIANT PDB LEU-392; VARIANTS VAL-117 AND GLN-274;
Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease.
Hocking L.J.; Lucas G.J.A.; Daroszewska A.; Mangion J.; Olavesen M.; Cundy T.; Nicholson G.C.; Ward L.; Bennett S.T.; Wuyts W.; Van Hul W.; Ralston S.H.;
Hum. Mol. Genet. 11:2735-2739(2002)
Cited for: VARIANT PDB LEU-392;
Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations.
Eekhoff E.W.M.; Karperien M.; Houtsma D.; Zwinderman A.H.; Dragoiescu C.; Kneppers A.L.J.; Papapoulos S.E.;
Arthritis Rheum. 50:1650-1654(2004)
Cited for: VARIANTS PDB LEU-392; PRO-399; THR-404 AND ARG-425;
Identification of SQSTM1 mutations in familial Paget's disease in Australian pedigrees.
Good D.A.; Busfield F.; Fletcher B.H.; Lovelock P.K.; Duffy D.L.; Kesting J.B.; Andersen J.; Shaw J.T.E.;
Cited for: VARIANT PDB LEU-392;
Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB).
Falchetti A.; Di Stefano M.; Marini F.; Del Monte F.; Mavilia C.; Strigoli D.; De Feo M.L.; Isaia G.; Masi L.; Amedei A.; Cioppi F.; Ghinoi V.; Maddali Bongi S.; Di Fede G.; Sferrazza C.; Rini G.B.; Melchiorre D.; Matucci-Cerinic M.; Brandi M.L.;
J. Bone Miner. Res. 19:1013-1017(2004)
Cited for: VARIANTS PDB LEU-392; VAL-404 AND ARG-425;
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