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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q86UE8: Variant p.Asp629Asn

Serine/threonine-protein kinase tousled-like 2
Gene: TLK2
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Variant information Variant position: help 629 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 Aspartate (D) to Asparagine (N) at position 629 (D629N, p.Asp629Asn). 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 medium size and acidic (D) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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 MRD57; reduced phosphorylation of ASF1A. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 629 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 772 The length of the canonical sequence.
Location on the sequence: help IKITDFGLSKIMDDDSYNSV D GMELTSQGAGTYWYLPPECF 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                         IKITDFGLSKIMDDDSYNSVDGMELTSQGAGTYWYLPPECF

Mouse                         IKITDFGLSKIMDDDSYNSVDGMELTSQGAGTYWYLPPECF

Xenopus tropicalis            IKITDFGLSKIMDDDSYNSVDGMELTSQGAGTYWYLPPECF

Zebrafish                     IKITDFGLSKIMDDDNY-GVDGMELTSQGAGTYWYLPPECF
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 – 772 Serine/threonine-protein kinase tousled-like 2
Domain 462 – 741 Protein kinase
Mutagenesis 613 – 613 D -> A. Loss of kinase activity.
Mutagenesis 617 – 617 S -> A. Increase in autophosphorylation.
Mutagenesis 617 – 617 S -> D. Loss of kinase activity.
Turn 627 – 629



Literature citations
Molecular basis of Tousled-Like Kinase 2 activation.
Mortuza G.B.; Hermida D.; Pedersen A.K.; Segura-Bayona S.; Lopez-Mendez B.; Redondo P.; Ruther P.; Pozdnyakova I.; Garrote A.M.; Munoz I.G.; Villamor-Paya M.; Jauset C.; Olsen J.V.; Stracker T.H.; Montoya G.;
Nat. Commun. 9:2535-2535(2018)
Cited for: X-RAY CRYSTALLOGRAPHY (2.86 ANGSTROMS) OF 191-755 IN COMPLEX WITH ATP; FUNCTION; SUBUNIT; INTERACTION WITH DYNLL1/LC8 AND TLK1; SUBCELLULAR LOCATION; PHOSPHORYLATION; CHARACTERIZATION OF VARIANTS MRD57 ARG-493; ARG-518 AND ASN-629; MUTAGENESIS OF HIS-518; ASP-613; SER-617; SER-659; SER-686; THR-695 AND ARG-720; De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Reijnders M.R.F.; Miller K.A.; Alvi M.; Goos J.A.C.; Lees M.M.; de Burca A.; Henderson A.; Kraus A.; Mikat B.; de Vries B.B.A.; Isidor B.; Kerr B.; Marcelis C.; Schluth-Bolard C.; Deshpande C.; Ruivenkamp C.A.L.; Wieczorek D.; Baralle D.; Blair E.M.; Engels H.; Luedecke H.J.; Eason J.; Santen G.W.E.; Clayton-Smith J.; Chandler K.; Tatton-Brown K.; Payne K.; Helbig K.; Radtke K.; Nugent K.M.; Cremer K.; Strom T.M.; Bird L.M.; Sinnema M.; Bitner-Glindzicz M.; van Dooren M.F.; Alders M.; Koopmans M.; Brick L.; Kozenko M.; Harline M.L.; Klaassens M.; Steinraths M.; Cooper N.S.; Edery P.; Yap P.; Terhal P.A.; van der Spek P.J.; Lakeman P.; Taylor R.L.; Littlejohn R.O.; Pfundt R.; Mercimek-Andrews S.; Stegmann A.P.A.; Kant S.G.; McLean S.; Joss S.; Swagemakers S.M.A.; Douzgou S.; Wall S.A.; Kuery S.; Calpena E.; Koelling N.; McGowan S.J.; Twigg S.R.F.; Mathijssen I.M.J.; Nellaker C.; Brunner H.G.; Wilkie A.O.M.;
Am. J. Hum. Genet. 102:1195-1203(2018)
Cited for: VARIANTS MRD57 13-GLN--ASN-772 DEL; 61-ARG--ASN-772 DEL; 68-GLU--ASN-772 DEL; 259-TYR--ASN-772 DEL; 262-ARG--ASN-772 DEL; ASP-297; 303-ARG--ASN-772 DEL; 330-SER--ASN-772 DEL; GLN-339; TRP-339; LYS-447; ARG-493; ARG-518; TRP-568; 573-GLN--ASN-772 DEL; ASN-629; ARG-680; 720-ARG--ASN-772 DEL AND 746-ARG--ASN-772 DEL; INVOLVEMENT IN MRD57;
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.