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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UHD2: Variant p.Tyr212Asp

Serine/threonine-protein kinase TBK1
Gene: TBK1
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Variant information Variant position: help 212 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 Tyrosine (Y) to Aspartate (D) at position 212 (Y212D, p.Tyr212Asp). 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 aromatic (Y) to medium size and acidic (D) 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 AIARV; likely pathogenic; severely decreased function in IRF3 phosphorylation and in positive regulation of type I interferon-mediated signaling pathway; does not rescue defective IRF3 phosphorylation on S-386 and IFN-1 stimulated gene expression in TBK1-deficient patient cells. Any additional useful information about the variant.


Sequence information Variant position: help 212 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 729 The length of the canonical sequence.
Location on the sequence: help KDHQKKYGATVDLWSIGVTF Y HAATGSLPFRPFEGPRRNKE 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                         KDHQKKYGATVDLWSIGVTFYHAATGSLPFRPFEGPRRNKE

Mouse                         KDHQKKYGATVDLWSVGVTFYHAATGSLPFRPFEGPRRNKE

Xenopus laevis                KEHQKKYSATVDLWSIGVTFYHAATGSLPFRPFEGPRRNKE
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 1 – 729 Serine/threonine-protein kinase TBK1
Domain 9 – 310 Protein kinase
Helix 202 – 216



Literature citations
Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death.
Taft J.; Markson M.; Legarda D.; Patel R.; Chan M.; Malle L.; Richardson A.; Gruber C.; Martin-Fernandez M.; Mancini G.M.S.; van Laar J.A.M.; van Pelt P.; Buta S.; Wokke B.H.A.; Sabli I.K.D.; Sancho-Shimizu V.; Chavan P.P.; Schnappauf O.; Khubchandani R.; Cueceoglu M.K.; Oezen S.; Kastner D.L.; Ting A.T.; Aksentijevich I.; Hollink I.H.I.M.; Bogunovic D.;
Cell 184:4447-4463.e20(2021)
Cited for: VARIANTS AIARV ASP-212; 440-ARG--LEU-729 DEL AND 619-TRP--LEU-729 DEL; CHARACTERIZATION OF VARIANTS AIARV ASP-212 AND 619-TRP--LEU-729 DEL; INVOLVEMENT IN AIARV; FUNCTION;
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.