Variant position: 401 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 729 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 VVSREPLNTIGLIYEKISLP KVHPRYDLDGDASMAKAITGV
Mouse VTSREQLNTVGLRYEKISLP KIHPRYDLDGDASMAKAVTGV
Xenopus laevis VLTREMVSVIGLRFDEIVIP KPISHYDLDVDANMAKAVTGV
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
1 – 729 Serine/threonine-protein kinase TBK1
401 – 401 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
401 – 401 K -> R. Decreases ubiquitination. Abolishes ubiquitination, phosphorylation and kinase activity; when associated with R-30.
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.
Pottier C.; Bieniek K.F.; Finch N.; van de Vorst M.; Baker M.; Perkersen R.; Brown P.; Ravenscroft T.; van Blitterswijk M.; Nicholson A.M.; DeTure M.; Knopman D.S.; Josephs K.A.; Parisi J.E.; Petersen R.C.; Boylan K.B.; Boeve B.F.; Graff-Radford N.R.; Veltman J.A.; Gilissen C.; Murray M.E.; Dickson D.W.; Rademakers R.;
Acta Neuropathol. 130:77-92(2015)
Cited for: INVOLVEMENT IN FTDALS4; VARIANTS FTDALS4 ILE-306; GLU-401 AND LYS-696;
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