Variant position: 659 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 CGSLGNIHHKPGGGQVEVKS EKLDFKDRVQSKIGSLDNITH
Gorilla CGSLGNIHHKPGGGQVEVKS EKLDFKDRVQSKIGSLDNITH
Rhesus macaque CGSLGNIHHKPGGGQVEVKS EKLDFKDRVQSKIGSLDNITH
Chimpanzee CGSLGNIHHKPGGGQVEVKS EKLDFKDRVQSKIGSLDNITH
Mouse CGSLGNIHHKPGGGQVEVKS EKLDFKDRVQSKIGSLDNITH
Rat CGSLGNIHHKPGGGQVEVKS EKLDFKDRVQSKIGSLDNITH
Bovine CGSLGNIHHKPGGGQVEVKS EKLDFKDRVQSKIGSLDNITH
Goat CGSLGNIHHKPGGGQVEVKS EKLDFKDRVQSKIGSLDNITH
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
648 – 648 Not glycated
657 – 657 Not glycated
660 – 660 Not glycated
641 – 641 Phosphoserine; by MARK1; in PHF-tau
648 – 648 N6-acetyllysine; alternate
660 – 660 N6-acetyllysine; alternate
664 – 664 N6-acetyllysine; alternate
666 – 666 Omega-N-methylarginine
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
648 – 648 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
660 – 660 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
664 – 664 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
670 – 670 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); in PHF-tau
Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation.
Lippa C.F.; Zhukareva V.; Kawarai T.; Uryu K.; Shafiq M.; Nee L.E.; Grafman J.; Liang Y.; St George-Hyslop P.H.; Trojanowski J.Q.; Lee V.M.-Y.;
Ann. Neurol. 48:850-858(2000)
Cited for: VARIANT FTD VAL-659;
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.