Variant position: 637 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 VPGGGSVQIVYKPVDLSKVT SKCGSLGNIHHKPGGGQVEVK
Gorilla VPGGGSVQIVYKPVDLSKVT SKCGSLGNIHHKPGGGQVEVK
Rhesus macaque VPGGGSVQIVYKPVDLSKVT SKCGSLGNIHHKPGGGQVEVK
Chimpanzee VPGGGSVQIVYKPVDLSKVT SKCGSLGNIHHKPGGGQVEVK
Mouse VPGGGSVQIVYKPVDLSKVT SKCGSLGNIHHKPGGGQVEVK
Rat VPGGGSVHIVYKPVDLSKVT SKCGSLGNIHHKPGGGQVEVK
Bovine VPGGGSVQIVYKPVDLSKVT SKCGSLGNIHHKPGGGQVEVK
Goat VPGGGSVQIVYKPVDLSKVT SKCGSLGNIHHKPGGGQVEVK
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
623 – 653 Tau/MAP 3
628 – 628 Not glycated
634 – 634 Not glycated
638 – 638 Not glycated
648 – 648 Not glycated
657 – 657 Not glycated
622 – 622 Phosphoserine; by MARK1; in PHF-tau
628 – 628 N6,N6-dimethyllysine; alternate
628 – 628 N6-acetyllysine; alternate
634 – 634 N6-acetyllysine; alternate
638 – 638 N6-acetyllysine; alternate
641 – 641 Phosphoserine; by MARK1; in PHF-tau
648 – 648 N6-acetyllysine; alternate
608 – 639
628 – 628 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); in PHF-tau
634 – 634 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
638 – 638 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
648 – 648 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease.
Rosso S.M.; Van Herpen E.; Deelen W.; Kamphorst W.; Severijnen L.-A.; Willemsen R.; Ravid R.; Niermeijer M.F.; Dooijes D.; Smith M.J.; Goedert M.; Heutink P.; Van Swieten J.C.;
Ann. Neurol. 51:373-376(2002)
Cited for: VARIANT PIDB PHE-637; CHARACTERIZATION OF VARIANT PIDB PHE-637;
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.