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
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 PDB3 LEU-392; PRO-399; THR-404 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.