Variant position: 282 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 736 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 SLNIITVTLNMEKYNFLGIS IVGQSNERGDGGIYIGSIMKG
Mouse SLNIITVTLNMEKYNFLGIS IVGQSNERGDGGIYIGSIMKG
Xenopus laevis SLNIITVTLNMEKYNFLGIS IVGQSNERGDGGIYIGSIMKG
Xenopus tropicalis SLNIITVTLNMEKYNFLGIS IVGQSNERGDGGIYIGSIMKG
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
1 – 736 Segment polarity protein dishevelled homolog DVL-2
267 – 339 PDZ
250 – 355 Required for interaction with FOXK2
262 – 262 S -> A. Almost abolishes interaction with FOXK2.
267 – 267 T -> A. Almost abolishes interaction with FOXK2.
269 – 269 T -> A. Almost abolishes interaction with FOXK2.
275 – 275 Y -> F. No effect on interaction with FOXK2.
281 – 281 S -> A. No effect on interaction with FOXK2.
286 – 286 S -> A. No effect on interaction with FOXK2.
295 – 295 Y -> F. No effect on interaction with FOXK2.
298 – 298 S -> A. No effect on interaction with FOXK2.
280 – 285
Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.
Varela I.; Tarpey P.; Raine K.; Huang D.; Ong C.K.; Stephens P.; Davies H.; Jones D.; Lin M.L.; Teague J.; Bignell G.; Butler A.; Cho J.; Dalgliesh G.L.; Galappaththige D.; Greenman C.; Hardy C.; Jia M.; Latimer C.; Lau K.W.; Marshall J.; McLaren S.; Menzies A.; Mudie L.; Stebbings L.; Largaespada D.A.; Wessels L.F.A.; Richard S.; Kahnoski R.J.; Anema J.; Tuveson D.A.; Perez-Mancera P.A.; Mustonen V.; Fischer A.; Adams D.J.; Rust A.; Chan-On W.; Subimerb C.; Dykema K.; Furge K.; Campbell P.J.; Teh B.T.; Stratton M.R.; Futreal P.A.;
Cited for: VARIANT THR-282;
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