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UniProtKB/Swiss-Prot Q6XUX3: Variant p.Ser843Leu

Dual serine/threonine and tyrosine protein kinase
Gene: DSTYK
Variant information

Variant position:  843
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Serine (S) to Leucine (L) at position 843 (S843L, p.Ser843Leu).
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 small size and polar (S) to medium size and hydrophobic (L)
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

Involvement in disease:  Congenital anomalies of the kidney and urinary tract 1 (CAKUT1) [MIM:610805]: A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children. {ECO:0000269|PubMed:23862974}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In CAKUT1.
Any additional useful information about the variant.

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



Sequence information

Variant position:  843
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  929
The length of the canonical sequence.

Location on the sequence:   GKYDNSVDVYAFGILFWYIC  S GSVKLPEAFERCASKDHLWN
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                         GKYDNSVDVYAFGILFWYICSGSVKLPEAFERCASKDHLWN

                              GKYDNSVDVYAFGILFWYICSGSVKLPEAFERCASKDHLWN

Rhesus macaque                GKYDNSVDVYAFGILFWYICSGSVKLPEAFERCASKDHLWN

Chimpanzee                    GKYDNSVDVYAFGILFWYICSGSVKLPEAFERCASKDHLWN

Mouse                         GKYDNSVDVYAFGILFWYICSGSIKLPEAFERCASKDHLWN

Rat                           GKYDNSVDVYAFGILFWYICSGSIKLPEAFERCASKDHLWN

Bovine                        GKYDNSVDVYAFGILFWYICSGSVKLPEAFERCASKDHLWN

Chicken                       GKYDNSVDVYAFGILFWYICSGHVKLPEAFERCASKDHLWN

Xenopus laevis                GKYDNSVDVYAFGILFWYICSGSVKLPEAFEKCASKDHLWN

Xenopus tropicalis            GKYDNSVDVYAFGILFWYICSGSVKLPEAFEKCASKDHLWN

Zebrafish                     GKYDNSVDVYAFGILFWYLCSGSVKLPEAFEKCASKDQLWT

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 – 929 Dual serine/threonine and tyrosine protein kinase
Domain 652 – 906 Protein kinase
Alternative sequence 719 – 929 Missing. In isoform 4.
Alternative sequence 824 – 868 Missing. In isoform 2.


Literature citations

Mutations in DSTYK and dominant urinary tract malformations.
Sanna-Cherchi S.; Sampogna R.V.; Papeta N.; Burgess K.E.; Nees S.N.; Perry B.J.; Choi M.; Bodria M.; Liu Y.; Weng P.L.; Lozanovski V.J.; Verbitsky M.; Lugani F.; Sterken R.; Paragas N.; Caridi G.; Carrea A.; Dagnino M.; Materna-Kiryluk A.; Santamaria G.; Murtas C.; Ristoska-Bojkovska N.; Izzi C.; Kacak N.; Bianco B.; Giberti S.; Gigante M.; Piaggio G.; Gesualdo L.; Kosuljandic Vukic D.; Vukojevic K.; Saraga-Babic M.; Saraga M.; Gucev Z.; Allegri L.; Latos-Bielenska A.; Casu D.; State M.; Scolari F.; Ravazzolo R.; Kiryluk K.; Al-Awqati Q.; D'Agati V.D.; Drummond I.A.; Tasic V.; Lifton R.P.; Ghiggeri G.M.; Gharavi A.G.;
N. Engl. J. Med. 369:621-629(2013)
Cited for: INVOLVEMENT IN CAKUT1; VARIANTS CAKUT1 GLN-29; GLY-200 AND LEU-843; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY;

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.