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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q6XUX3: Variant p.Asp200Gly

Dual serine/threonine and tyrosine protein kinase
Gene: DSTYK
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Variant information Variant position: help 200 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 Glycine (G) at position 200 (D200G, p.Asp200Gly). 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 glycine (G) 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 CAKUT1. Any additional useful information about the variant.


Sequence information Variant position: help 200 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 929 The length of the canonical sequence.
Location on the sequence: help HQGNWETIPEEDLEVQENNE D AAHVLAELEVTMHHALLQEV 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                         HQGNWETIPEEDLEVQENNEDAAHVLAELEVTMHHALLQEV

                              HQGNWDTIPEEDLEVQEDSEDAAHVLAELEVTMHHALLQDV

Rhesus macaque                HQGNWETIPEEDLEVQENNEDAAHVLAELEVTMHHALLQEV

Chimpanzee                    HQGNWETIPEEDLEVQENNEDAAHVLAELEVTMHHALLQEV

Mouse                         HQDNWETIPEEDLEVQEDSEDAAHVLADLEVTMHHALLQEV

Rat                           HQDNWETIPEEDLEVQEDSEDTARVLADLEVTMHHALLQEV

Bovine                        HQGTWETVPEEDLEAREDSEDAARVLAELEVTMRHALLQEV

Chicken                       HRGHWDTIPEEDLEIRGDSEDPAHRIAELEVVLPYSLLKEV

Xenopus laevis                HQGKWDTIPEEDLDVPEDEEDPAHRLAELEVTLPHQLLQDV

Xenopus tropicalis            HQGKWDTIPEEDLDVPEDEEDPAHRLAELEVTLPHQLLQDV

Zebrafish                     HCGRWDTVPRQDLEIQE-CEDPAQRLAELEITLHHTLLQEV
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 – 929 Dual serine/threonine and tyrosine protein kinase
Coiled coil 189 – 215
Alternative sequence 1 – 539 Missing. In isoform 4.



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.