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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10636: Variant p.Lys686Ile

Microtubule-associated protein tau
Gene: MAPT
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Variant information Variant position: help 686 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Lysine (K) to Isoleucine (I) at position 686 (K686I, p.Lys686Ile). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (K) to medium size and hydrophobic (I) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In PIDB; 90% reduction in the rate of microtubule assembly. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 686 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 758 The length of the canonical sequence.
Location on the sequence: help RVQSKIGSLDNITHVPGGGN K KIETHKLTFRENAKAKTDHG 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         RVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHG

Gorilla                       RVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHG

Rhesus macaque                RVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHG

Chimpanzee                    RVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHG

Mouse                         RVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHG

Rat                           RVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHG

Bovine                        RVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHG

Goat                          RVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHG
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 2 – 758 Microtubule-associated protein tau
Site 687 – 687 Not glycated
Site 692 – 692 Not glycated
Site 700 – 700 Not glycated
Site 702 – 702 Not glycated
Modified residue 666 – 666 Omega-N-methylarginine
Modified residue 669 – 669 Phosphoserine; by PHK
Modified residue 673 – 673 Phosphoserine
Modified residue 686 – 686 N6-acetyllysine; alternate
Modified residue 702 – 702 N6-acetyllysine; alternate
Glycosylation 670 – 670 N-linked (Glc) (glycation) lysine; in PHF-tau; in vitro
Glycosylation 686 – 686 N-linked (Glc) (glycation) lysine; in PHF-tau; in vitro
Cross 670 – 670 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); in PHF-tau
Cross 686 – 686 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
Cross 692 – 692 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Cross 702 – 702 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
Beta strand 685 – 695



Literature citations
Pick's disease associated with the novel Tau gene mutation K369I.
Neumann M.; Schulz-Schaeffer W.; Crowther R.A.; Smith M.J.; Spillantini M.G.; Goedert M.; Kretzschmar H.A.;
Ann. Neurol. 50:503-513(2001)
Cited for: VARIANT PIDB ILE-686; CHARACTERIZATION OF VARIANT PIDB ILE-686;
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.