Variant position: 404 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 PHLPPEADPRLIESLSQMLS MGFSDEGGWLTRLLQTKNYDI
Mouse PHLPPEADPRLIESLSQMLS MGFSDEGGWLTRLLQTKNYDI
Rat PHLPPEADPRLIESLSQMLS MGFSDEGGWLTRLLQTKNYDI
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.
413 – 413 L -> V. No effect on polyubiquitin-binding.
417 – 417 L -> V. Loss of polyubiquitin-binding.
403 – 405
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 PDB3 LEU-392; VAL-404 AND ARG-425;
Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences.
Hocking L.J.; Lucas G.J.A.; Daroszewska A.; Cundy T.; Nicholson G.C.; Donath J.; Walsh J.P.; Finlayson C.; Cavey J.R.; Ciani B.; Sheppard P.W.; Searle M.S.; Layfield R.; Ralston S.H.;
J. Bone Miner. Res. 19:1122-1127(2004)
Cited for: VARIANTS PDB3 VAL-404; SER-411 AND ARG-425; CHARACTERIZATION OF VARIANTS VAL-404; SER-411 AND ARG-425;
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.