Sequence information
Variant position: 282 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 387 The length of the canonical sequence.
Location on the sequence:
GFPPAVQRWVIGRCLCVPER
S LASYGVRQDGDPAFLYLLSA
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 GFPPAVQRWVIGRCLCVPERS LASYGVRQDGDPAFLYLLSA
Mouse GFPPAVQRWVIGRCLCMPERS LASYGVSQDGDPAFLYLLSA
Rat GFPPAVQRWVIGRCLCMPERS LASYGVSQDGDPAFLYLLSA
Bovine GFPPAVQRWVIGRCLCVPEHS LAFYGVQRDGDPAFLYLLSA
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
Chain
1 – 387
Sharpin
Domain
219 – 288
Ubiquitin-like
Region
175 – 310
Interaction with SHANK1
Mutagenesis
272 – 272
I -> A. Abolishes interaction with RNF31 and ability to mediate linear polyubiquitination.
Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.