Variant position: 654 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 KVTSKCGSLGNIHHKPGGGQ VEVKSEKLDFKDRVQSKIGSL
Gorilla KVTSKCGSLGNIHHKPGGGQ VEVKSEKLDFKDRVQSKIGSL
Rhesus macaque KVTSKCGSLGNIHHKPGGGQ VEVKSEKLDFKDRVQSKIGSL
Chimpanzee KVTSKCGSLGNIHHKPGGGQ VEVKSEKLDFKDRVQSKIGSL
Mouse KVTSKCGSLGNIHHKPGGGQ VEVKSEKLDFKDRVQSKIGSL
Rat KVTSKCGSLGNIHHKPGGGQ VEVKSEKLDFKDRVQSKIGSL
Bovine KVTSKCGSLGNIHHKPGGGQ VEVKSEKLDFKDRVQSKIGSL
Goat KVTSKCGSLGNIHHKPGGGQ VEVKSEKLDFKDRVQSKIGSL
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
654 – 685 Tau/MAP 4
634 – 634 Not glycated
638 – 638 Not glycated
648 – 648 Not glycated
657 – 657 Not glycated
660 – 660 Not glycated
641 – 641 Phosphoserine; by MARK1; in PHF-tau
669 – 669 Phosphoserine; by PHK
673 – 673 Phosphoserine; by MARK1; in PHF-tau
664 – 664 N-linked (Glc) (glycation); in PHF-tau; in vitro
670 – 670 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
Tau is a candidate gene for chromosome 17 frontotemporal dementia.
Poorkaj P.; Bird T.D.; Wijsman E.; Nemens E.; Garruto R.M.; Anderson L.; Andreadis A.; Wiederholt W.C.; Raskind M.; Schellenberg G.D.;
Ann. Neurol. 43:815-825(1998)
Cited for: VARIANT FTD MET-654; VARIANTS ASN-285; ALA-289; HIS-441 AND PRO-447;
Accelerated filament formation from tau protein with specific FTDP-17 missense mutations.
Nacharaju P.; Lewis J.; Easson C.; Yen S.; Hackett J.; Hutton M.; Yen S.H.;
FEBS Lett. 447:195-199(1999)
Cited for: VARIANTS FTD LEU-618; MET-654 AND TRP-723;
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.