Variant position: 686 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 758 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 RVQSKIGSLDNITHVPGGGN KKIETHKLTFRENAKAKTDHG
Gorilla RVQSKIGSLDNITHVPGGGN KKIETHKLTFRENAKAKTDHG
Rhesus macaque RVQSKIGSLDNITHVPGGGN KKIETHKLTFRENAKAKTDHG
Chimpanzee RVQSKIGSLDNITHVPGGGN KKIETHKLTFRENAKAKTDHG
Mouse RVQSKIGSLDNITHVPGGGN KKIETHKLTFRENAKAKTDHG
Rat RVQSKIGSLDNITHVPGGGN KKIETHKLTFRENAKAKTDHG
Bovine RVQSKIGSLDNITHVPGGGN KKIETHKLTFRENAKAKTDHG
Goat RVQSKIGSLDNITHVPGGGN KKIETHKLTFRENAKAKTDHG
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
2 – 758 Microtubule-associated protein tau
687 – 687 Not glycated
692 – 692 Not glycated
700 – 700 Not glycated
702 – 702 Not glycated
666 – 666 Omega-N-methylarginine
669 – 669 Phosphoserine; by PHK
673 – 673 Phosphoserine; by MARK1; in PHF-tau
686 – 686 N6-acetyllysine; alternate
702 – 702 N6-acetyllysine; alternate
670 – 670 N-linked (Glc) (glycation); in PHF-tau; in vitro
686 – 686 N-linked (Glc) (glycation); in PHF-tau; in vitro
670 – 670 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); in PHF-tau
686 – 686 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
692 – 692 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
702 – 702 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
Pick's disease associated with the novel Tau gene mutation K369I.
Neumann M.; Schulz-Schaeffer W.; Crowther R.A.; Smith M.J.; Spillantini M.G.; Goedert M.; Kretzschmar H.A.;
Ann. Neurol. 50:503-513(2001)
Cited for: VARIANT PIDB ILE-686; CHARACTERIZATION OF VARIANT PIDB ILE-686;
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.