Sequence information
Variant position: 634 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:
IKHVPGGGSVQIVYKPVDLS
K VTSKCGSLGNIHHKPGGGQV
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 IKHVPGGGSVQIVYKPVDLSK VTSKCGSLGNIHHKPGGGQV
Gorilla IKHVPGGGSVQIVYKPVDLSK VTSKCGSLGNIHHKPGGGQV
Rhesus macaque IKHVPGGGSVQIVYKPVDLSK VTSKCGSLGNIHHKPGGGQV
Chimpanzee IKHVPGGGSVQIVYKPVDLSK VTSKCGSLGNIHHKPGGGQV
Mouse IKHVPGGGSVQIVYKPVDLSK VTSKCGSLGNIHHKPGGGQV
Rat IKHVPGGGSVHIVYKPVDLSK VTSKCGSLGNIHHKPGGGQV
Bovine IKHVPGGGSVQIVYKPVDLSK VTSKCGSLGNIHHKPGGGQV
Goat IKHVPGGGSVQIVYKPVDLSK VTSKCGSLGNIHHKPGGGQV
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
Chain
2 – 758
Microtubule-associated protein tau
Repeat
623 – 653
Tau/MAP 3
Region
561 – 685
Microtubule-binding domain
Site
615 – 615
Not glycated
Site
628 – 628
Not glycated
Site
634 – 634
Not glycated
Site
638 – 638
Not glycated
Site
648 – 648
Not glycated
Modified residue
615 – 615
N6-acetyllysine; alternate
Modified residue
622 – 622
Phosphoserine; by PHK
Modified residue
628 – 628
N6,N6-dimethyllysine; alternate
Modified residue
628 – 628
N6-acetyllysine; alternate
Modified residue
634 – 634
N6-acetyllysine; alternate
Modified residue
638 – 638
N6-acetyllysine; alternate
Modified residue
641 – 641
Phosphoserine
Modified residue
648 – 648
N6-acetyllysine; alternate
Disulfide bond
608 – 639
Cross
615 – 615
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
Cross
628 – 628
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); in PHF-tau
Cross
634 – 634
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
Cross
638 – 638
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
Cross
648 – 648
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
Literature citations
A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.
Zarranz J.J.; Ferrer I.; Lezcano E.; Forcadas M.I.; Eizaguirre B.; Atares B.; Puig B.; Gomez-Esteban J.C.; Fernandez-Maiztegui C.; Rouco I.; Perez-Concha T.; Fernandez M.; Rodriguez O.; Rodriguez-Martinez A.B.; de Pancorbo M.M.; Pastor P.; Perez-Tur J.;
Neurology 64:1578-1585(2005)
Cited for: VARIANT FTD MET-634;
Disclaimer:
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.