Variant position: 169 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 414 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 FVRFTEYETQVKVMS-QRHMI DGRWCDCKLPNSKQSQDEPLR
Mouse FVRFTEYETQVKVMS-QRHMI DGRWCDCKLPNSKQSPDEPL
Chicken FVRFTDYETQVKVMS-QRHMI DGRWCDCKLPNSKQSPDEPL
Xenopus tropicalis FVRFADYETQVKVMS-QRHMI DGRWCDCKLPNSKS-PDEPM
Caenorhabditis elegans FVRMSSVGEQNKVLAIPQHMI DGRRCDVKVPDGRSLQDKQG
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 – 414 TAR DNA-binding protein 43
104 – 200 RRM 1
183 – 183 Phosphoserine
181 – 181 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
106 – 175 Missing. Completely abolishes RNA binding.
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.
Kabashi E.; Valdmanis P.N.; Dion P.; Spiegelman D.; McConkey B.J.; Vande Velde C.; Bouchard J.-P.; Lacomblez L.; Pochigaeva K.; Salachas F.; Pradat P.-F.; Camu W.; Meininger V.; Dupre N.; Rouleau G.A.;
Nat. Genet. 40:572-574(2008)
Cited for: VARIANTS ALS10 GLY-169; SER-287; THR-315; CYS-348; SER-361; THR-382; ASP-390 AND SER-390; VARIANT VAL-90;
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.