Variant position: 254 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 526 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 RSSGGYEPRGRGGGRGGRGG MGGSDRGGFNKFGGPRDQGSR
Mouse RSSGGYEPRGRGGGRGGRGG MGGSDRGGFNKFGGPRDQGSR
Bovine RSSGGYEPRGRGGGRGGRGG MGGSDRGGFNKFGGPRDQGSR
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 – 526 RNA-binding protein FUS
166 – 267 Gly-rich
242 – 242 Asymmetric dimethylarginine
244 – 244 Asymmetric dimethylarginine
248 – 248 Asymmetric dimethylarginine
251 – 251 Asymmetric dimethylarginine
259 – 259 Asymmetric dimethylarginine
Genetic contribution of FUS to frontotemporal lobar degeneration.
Van Langenhove T.; van der Zee J.; Sleegers K.; Engelborghs S.; Vandenberghe R.; Gijselinck I.; Van den Broeck M.; Mattheijssens M.; Peeters K.; De Deyn P.P.; Cruts M.; Van Broeckhoven C.;
Cited for: VARIANT ALS6 HIS-521; VARIANT VAL-254;
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.