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UniProtKB/Swiss-Prot Q9UHD2: Variant p.Leu306Ile

Serine/threonine-protein kinase TBK1
Gene: TBK1
Variant information

Variant position:  306
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  US
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:  From Leucine (L) to Isoleucine (I) at position 306 (L306I, p.Leu306Ile).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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:  In FTDALS4; unknown pathological significance.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  306
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:   EADQEKCWGFDQFFAETSDI  L HRMVIHVFSLQQMTAHKIYI
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                         EADQEKCWGFDQFFAETSDILHRMVIHVFSLQQMTAHKIYI

Mouse                         EADQEKCWGFDQFFAETSDVLHRMVIHVFSLQHMTAHKIYI

Xenopus laevis                EADQEKCWGFEQFFAVTNDIFNRIVVHVFSLQQMTPHKIYI

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.

TypePositionsDescription
Chain 1 – 729 Serine/threonine-protein kinase TBK1
Domain 9 – 310 Protein kinase
Mutagenesis 316 – 316 L -> E. Decreases kinase activity. No effect on phosphorylation.
Mutagenesis 325 – 325 Y -> E. Abolishes phosphorylation and kinase activity.
Helix 305 – 307


Literature citations

Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.
Fingert J.H.; Robin A.L.; Stone J.L.; Roos B.R.; Davis L.K.; Scheetz T.E.; Bennett S.R.; Wassink T.H.; Kwon Y.H.; Alward W.L.; Mullins R.F.; Sheffield V.C.; Stone E.M.;
Hum. Mol. Genet. 20:2482-2494(2011)
Cited for: INVOLVEMENT IN GLC1P; TISSUE SPECIFICITY; VARIANTS PHE-151; ILE-306 AND ALA-464;

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;

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.