Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10636: Variant p.Gly706Arg

Microtubule-associated protein tau
Gene: MAPT
Feedback?
Variant information Variant position: help 706 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 Glycine (G) to Arginine (R) at position 706 (G706R, p.Gly706Arg). 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 glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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; in vitro the mutation reduces the ability of tau to promote microtubule assembly by 25 to 30%. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 706 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 KKIETHKLTFRENAKAKTDH G AEIVYKSPVVSGDTSPRHLS 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                         KKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLS

Gorilla                       KKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLS

Rhesus macaque                KKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLS

Chimpanzee                    KKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLS

Mouse                         KKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLS

Rat                           KKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLS

Bovine                        KKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLS

Goat                          KKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLS
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
Site 712 – 712 Not glycated
Modified residue 686 – 686 N6-acetyllysine; alternate
Modified residue 702 – 702 N6-acetyllysine; alternate
Modified residue 711 – 711 Phosphotyrosine
Modified residue 713 – 713 Phosphoserine; by CK1 and PDPK1
Modified residue 717 – 717 Phosphoserine; alternate
Modified residue 720 – 720 Phosphothreonine
Modified residue 721 – 721 Phosphoserine; by CK1 and PDPK1
Modified residue 726 – 726 Phosphoserine
Glycosylation 686 – 686 N-linked (Glc) (glycation) lysine; in PHF-tau; in vitro
Glycosylation 717 – 717 O-linked (GlcNAc) serine; alternate
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
Mutagenesis 713 – 713 S -> E. No association with plasma membrane.
Mutagenesis 721 – 721 S -> E. No association with plasma membrane.
Mutagenesis 726 – 726 S -> E. No association with plasma membrane.



Literature citations
Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits.
Murrell J.R.; Spillantini M.G.; Zolo P.; Guazzelli M.; Smith M.J.; Hasegawa M.; Redi F.; Crowther R.A.; Pietrini P.; Ghetti B.; Goedert M.;
J. Neuropathol. Exp. Neurol. 58:1207-1226(1999)
Cited for: VARIANT PIDB ARG-706; Pick's disease is associated with mutations in the tau gene.
Pickering-Brown S.; Baker M.; Yen S.-H.; Liu W.-K.; Hasegawa M.; Cairns N.; Lantos P.L.; Rossor M.; Iwatsubo T.; Davies Y.; Allsop D.; Furlong R.; Owen F.; Hardy J.; Mann D.; Hutton M.;
Ann. Neurol. 48:859-867(2000)
Cited for: VARIANTS PIDB THR-574 AND ARG-706; CHARACTERIZATION OF VARIANTS PIDB THR-574 AND ARG-706;
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.