Variant position: 613 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 QIINKKLDLSNVQSKCGSKD NIKHVPGGGSVQIVYKPVDLS
Gorilla QIINKKLDLSNVQSKCGSKD NIKHVPGGGSVQIVYKPVDLS
Rhesus macaque QIINKKLDLSNVQSKCGSKD NIKHVPGGGSVQIVYKPVDLS
Chimpanzee QIINKKLDLSNVQSKCGSKD NIKHVPGGGSVQIVYKPVDLS
Mouse QIINKKLDLSNVQSKCGSKD NIKHVPGGGSVQIVYKPVDLS
Rat QIINKKLDLSNVQSKCGSKD NIKHVPGGGSVHIVYKPVDLS
Bovine QIINKKLDLSNVQSKCGSKD NIKHVPGGGSVQIVYKPVDLS
Goat QIINKKLDLSNVQSKCGSKD NIKHVPGGGSVQIVYKPVDLS
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
592 – 622 Tau/MAP 2
561 – 685 Microtubule-binding domain
607 – 607 Not glycated
611 – 611 Not glycated
615 – 615 Not glycated
628 – 628 Not glycated
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
615 – 615 N6-acetyllysine; alternate
622 – 622 Phosphoserine; by PHK
628 – 628 N6,N6-dimethyllysine; alternate
628 – 628 N6-acetyllysine; alternate
597 – 597 N-linked (Glc) (glycation) lysine; in PHF-tau; in vitro
598 – 598 N-linked (Glc) (glycation) lysine; in PHF-tau; in vitro
608 – 639
598 – 598 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
615 – 615 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
628 – 628 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); in PHF-tau
592 – 622 Missing. In isoform Tau-A, isoform Tau-B, isoform Tau-C and isoform Fetal-tau.
611 – 617
Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells.
Iseki E.; Matsumura T.; Marui W.; Hino H.; Odawara T.; Sugiyama N.; Suzuki K.; Sawada H.; Arai T.; Kosaka K.;
Acta Neuropathol. 102:285-292(2001)
Cited for: VARIANT FTD HIS-613;
Functional effects of tau gene mutations deltaN296 and N296H.
Yoshida H.; Crowther R.A.; Goedert M.;
J. Neurochem. 80:548-551(2002)
Cited for: CHARACTERIZATION OF VARIANTS FTD ASN-613 DEL AND HIS-613;
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.