Variant position: 583 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 APVPMPDLKNVKSKIGSTEN LKHQPGGGKVQIINKKLDLSN
Gorilla APVPMPDLKNVKSKIGSTEN LKHQPGGGKVQIINKKLDLSN
Rhesus macaque APVPMPDLKNVKSKIGSTEN LKHQPGGGKVQIINKKLDLSN
Chimpanzee APVPMPDLKNVKSKIGSTEN LKHQPGGGKVQIINKKLDLSN
Mouse APVPMPDLKNVRSKIGSTEN LKHQPGGGKVQIINKKLDLSN
Rat APVPMPDLKNVRSKIGSTEN LKHQPGGGKVQIINKKLDLSN
Bovine APGPMPDLKNVKSKIGSTEN LKHQPGGGKVQIINKKLDLSN
Goat APGPMPDLKNVKSKIGSTEN LKHQPGGGKVQIINKKLDLSN
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
571 – 571 Not glycated
574 – 574 Not glycated
584 – 584 Not glycated
591 – 591 Not glycated
576 – 576 N6-acetyllysine; alternate
576 – 576 N6-methyllysine; alternate
579 – 579 Phosphoserine; by MARK1, 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
576 – 576 N-linked (Glc) (glycation); in PHF-tau; in vitro
597 – 597 N-linked (Glc) (glycation); in PHF-tau; in vitro
598 – 598 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
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.
A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.
Kobayashi T.; Ota S.; Tanaka K.; Ito Y.; Hasegawa M.; Umeda Y.; Motoi Y.; Takanashi M.; Yasuhara M.; Anno M.; Mizuno Y.; Mori H.;
Ann. Neurol. 53:133-137(2003)
Cited for: VARIANT FTD VAL-583; CHARACTERIZATION OF VARIANT FTD VAL-583;
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.