Variant position: 590 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 LKNVKSKIGSTENLKHQPGG GKVQIINKKLDLSNVQSKCGS
Gorilla LKNVKSKIGSTENLKHQPGG GKVQIINKKLDLSNVQSKCGS
Rhesus macaque LKNVKSKIGSTENLKHQPGG GKVQIINKKLDLSNVQSKCGS
Chimpanzee LKNVKSKIGSTENLKHQPGG GKVQIINKKLDLSNVQSKCGS
Mouse LKNVRSKIGSTENLKHQPGG GKVQIINKKLDLSNVQSKCGS
Rat LKNVRSKIGSTENLKHQPGG GKVQIINKKLDLSNVQSKCGS
Bovine LKNVKSKIGSTENLKHQPGG GKVQIINKKLDLSNVQSKCGS
Goat LKNVKSKIGSTENLKHQPGG GKVQIINKKLDLSNVQSKCGS
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
561 – 685 Microtubule-binding domain
571 – 571 Not glycated
574 – 574 Not glycated
584 – 584 Not glycated
591 – 591 Not glycated
607 – 607 Not glycated
576 – 576 N6-acetyllysine; alternate
576 – 576 N6-methyllysine; alternate
579 – 579 Phosphoserine; by MARK1, MARK2, MARK3, MARK4, BRSK1, BRSK2 and PHK
596 – 596 Deamidated asparagine; in tau and PHF-tau; partial
598 – 598 N6-acetyllysine; alternate
602 – 602 Phosphoserine; by PHK
607 – 607 N6-acetyllysine
610 – 610 Phosphoserine
576 – 576 N-linked (Glc) (glycation) lysine; in PHF-tau; in vitro
597 – 597 N-linked (Glc) (glycation) lysine; in PHF-tau; in vitro
598 – 598 N-linked (Glc) (glycation) lysine; in PHF-tau; in vitro
571 – 571 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); in PHF-tau
576 – 576 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
584 – 584 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
598 – 598 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
579 – 579 S -> A. 8% decrease in microtubule-binding after in vitro phosphorylation of mutant protein.
587 – 590
Fibrillation and molecular characteristics are coherent with clinical and pathological features of 4-repeat tauopathy caused by MAPT variant G273R.
Sandberg A.; Ling H.; Gearing M.; Dombroski B.; Cantwell L.; R'Bibo L.; Levey A.; Schellenberg G.D.; Hardy J.; Wood N.; Fernius J.; Nystroem S.; Svensson S.; Thor S.; Hammarstroem P.; Revesz T.; Mok K.Y.;
Neurobiol. Dis. 146:105079-105079(2020)
Cited for: VARIANT FTD ARG-590; CHARACTERIZATION OF VARIANT FTD ARG-590; FUNCTION;
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.