Variant position: 514 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 FRGGRGGGDRGGFGPGKMDS RGEHRQDRRERPY
Mouse FRGGRGGGDRGGFGPGKMDS RGEHRQDRRERPY
Bovine FRGGRGGGDRGGFGPGKMDS RGEHRQDRRERPY
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
371 – 526 Arg/Gly-rich
495 – 495 Asymmetric dimethylarginine
498 – 498 Asymmetric dimethylarginine
503 – 503 Asymmetric dimethylarginine; alternate
503 – 503 Omega-N-methylarginine; alternate
514 – 521
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.
Kwiatkowski T.J. Jr.; Bosco D.A.; Leclerc A.L.; Tamrazian E.; Vanderburg C.R.; Russ C.; Davis A.; Gilchrist J.; Kasarskis E.J.; Munsat T.; Valdmanis P.; Rouleau G.A.; Hosler B.A.; Cortelli P.; de Jong P.J.; Yoshinaga Y.; Haines J.L.; Pericak-Vance M.A.; Yan J.; Ticozzi N.; Siddique T.; McKenna-Yasek D.; Sapp P.C.; Horvitz H.R.; Landers J.E.; Brown R.H. Jr.;
Cited for: VARIANTS ALS6 CYS-244; SER-514; CYS-515; LYS-518; CYS-521; GLY-521; HIS-521; GLY-522; SER-524; THR-524 AND LEU-525; VARIANT GLN-517; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT ALS6 GLY-521; CHARACTERIZATION OF VARIANT GLN-517;
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.