UniProtKB/Swiss-Prot Q86UE8: Variant p.His6Arg

Serine/threonine-protein kinase tousled-like 2
Gene: TLK2
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Variant information Variant position:

6 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Histidine (H) to Arginine (R) at position 6 (H6R, p.His6Arg). 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:

Change from medium size and polar (H) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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
Other resources:

Links to websites of interest for the variant.

Variant rs45550140 [ dbSNP | Ensembl ]

Sequence information Variant position:

6 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

772 The length of the canonical sequence.
Location on the sequence:

MMEEL H SLDPRRQELLEARFTGVGVS 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                         MMEELHSLDPRRQELLEARFTGVGVS

Mouse                         MMEELHSLDPRRQELLEARFTGVGVS

Xenopus tropicalis            MMEELHSLDPRRQELLEARFTGVGVA

Zebrafish                     MMEELHSLDPRRQELLEARFTGVGVA

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
Chain	1 – 772	Serine/threonine-protein kinase tousled-like 2

Literature citations
cDNA cloning and chromosomal mapping of genes encoding novel protein kinases termed PKU-alpha and PKU-beta, which have nuclear localization signal.
Yamakawa A.; Kameoka Y.; Hashimoto K.; Yoshitake Y.; Nishikawa K.; Tanihara K.; Date T.;
Gene 202:193-201(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3); VARIANT ARG-6; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; Patterns of somatic mutation in human cancer genomes.
Greenman C.; Stephens P.; Smith R.; Dalgliesh G.L.; Hunter C.; Bignell G.; Davies H.; Teague J.; Butler A.; Stevens C.; Edkins S.; O'Meara S.; Vastrik I.; Schmidt E.E.; Avis T.; Barthorpe S.; Bhamra G.; Buck G.; Choudhury B.; Clements J.; Cole J.; Dicks E.; Forbes S.; Gray K.; Halliday K.; Harrison R.; Hills K.; Hinton J.; Jenkinson A.; Jones D.; Menzies A.; Mironenko T.; Perry J.; Raine K.; Richardson D.; Shepherd R.; Small A.; Tofts C.; Varian J.; Webb T.; West S.; Widaa S.; Yates A.; Cahill D.P.; Louis D.N.; Goldstraw P.; Nicholson A.G.; Brasseur F.; Looijenga L.; Weber B.L.; Chiew Y.-E.; DeFazio A.; Greaves M.F.; Green A.R.; Campbell P.; Birney E.; Easton D.F.; Chenevix-Trench G.; Tan M.-H.; Khoo S.K.; Teh B.T.; Yuen S.T.; Leung S.Y.; Wooster R.; Futreal P.A.; Stratton M.R.;
Nature 446:153-158(2007)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] ARG-6; ASP-54; GLY-95; GLY-108; LEU-109; LEU-173 AND GLN-262; 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.