Variant position: 622 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 SNVQSKCGSKDNIKHVPGGG SVQIVYKPVDLSKVTSKCGSL
Gorilla SNVQSKCGSKDNIKHVPGGG SVQIVYKPVDLSKVTSKCGSL
Rhesus macaque SNVQSKCGSKDNIKHVPGGG SVQIVYKPVDLSKVTSKCGSL
Chimpanzee SNVQSKCGSKDNIKHVPGGG SVQIVYKPVDLSKVTSKCGSL
Mouse SNVQSKCGSKDNIKHVPGGG SVQIVYKPVDLSKVTSKCGSL
Rat SNVQSKCGSKDNIKHVPGGG SVHIVYKPVDLSKVTSKCGSL
Bovine SNVQSKCGSKDNIKHVPGGG SVQIVYKPVDLSKVTSKCGSL
Goat SNVQSKCGSKDNIKHVPGGG SVQIVYKPVDLSKVTSKCGSL
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
607 – 607 Not glycated
611 – 611 Not glycated
615 – 615 Not glycated
628 – 628 Not glycated
634 – 634 Not glycated
638 – 638 Not glycated
602 – 602 Phosphoserine; by PHK
606 – 606 Phosphoserine; by PHK
610 – 610 Phosphoserine; by MARK1; in PHF-tau
622 – 622 Phosphoserine; by MARK1; in PHF-tau
641 – 641 Phosphoserine; by MARK1; in PHF-tau
608 – 639
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.
A distinct familial presenile dementia with a novel missense mutation in the tau gene.
Iijima M.; Tabira T.; Poorkaj P.; Schellenberg G.D.; Trojanowski J.Q.; Lee V.M.-Y.; Schmidt M.L.; Takahashi K.; Nabika T.; Matsumoto T.; Yamashita Y.; Yoshioka S.; Ishino H.;
Cited for: VARIANT FTD ASN-622;
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.