Variant position: 574 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 SSAKSRLQTAPVPMPDLKNV KSKIGSTENLKHQPGGGKVQI
Gorilla SSAKSRLQTAPVPMPDLKNV KSKIGSTENLKHQPGGGKVQI
Rhesus macaque SSAKSRLQTAPVPMPDLKNV KSKIGSTENLKHQPGGGKVQI
Chimpanzee SSAKSRLQTAPVPMPDLKNV KSKIGSTENLKHQPGGGKVQI
Mouse SASKSRLQTAPVPMPDLKNV RSKIGSTENLKHQPGGGKVQI
Rat SASKSRLQTAPVPMPDLKNV RSKIGSTENLKHQPGGGKVQI
Bovine SAAKSRLQAAPGPMPDLKNV KSKIGSTENLKHQPGGGKVQI
Goat SAAKSRLQAAPGPMPDLKNV KSKIGSTENLKHQPGGGKVQI
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
561 – 591 Tau/MAP 1
557 – 557 Not glycated
571 – 571 Not glycated
574 – 574 Not glycated
584 – 584 Not glycated
591 – 591 Not glycated
554 – 554 Phosphoserine; by PHK
579 – 579 Phosphoserine; by MARK1, BRSK1, BRSK2 and PHK
555 – 555 O-linked (GlcNAc)
576 – 576 N-linked (Glc) (glycation); in PHF-tau; in vitro
571 – 571 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); in PHF-tau
579 – 579 S -> A. 8% decrease in microtubule-binding after in vitro phosphorylation of mutant protein.
Pick's disease is associated with mutations in the tau gene.
Pickering-Brown S.; Baker M.; Yen S.-H.; Liu W.-K.; Hasegawa M.; Cairns N.; Lantos P.L.; Rossor M.; Iwatsubo T.; Davies Y.; Allsop D.; Furlong R.; Owen F.; Hardy J.; Mann D.; Hutton M.;
Ann. Neurol. 48:859-867(2000)
Cited for: VARIANTS PIDB THR-574 AND ARG-706; CHARACTERIZATION OF VARIANTS PIDB THR-574 AND ARG-706;
Tau gene mutation K257T causes a tauopathy similar to Pick's disease.
Rizzini C.; Goedert M.; Hodges J.R.; Smith M.J.; Jakes R.; Hills R.; Xuereb J.H.; Crowther R.A.; Spillantini M.G.;
J. Neuropathol. Exp. Neurol. 59:990-1001(2000)
Cited for: VARIANT PIDB THR-574;
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.