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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13563: Variant p.Trp414Gly

Polycystin-2
Gene: PKD2
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Variant information Variant position: help 414 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 Tryptophan (W) to Glycine (G) at position 414 (W414G, p.Trp414Gly). 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 (W) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In PKD2; affects channel activity as it is able to abolish channel currents induced by the gain-of-function artificial mutant P-604. Any additional useful information about the variant.


Sequence information Variant position: help 414 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 968 The length of the canonical sequence.
Location on the sequence: help DLSRTREETAAQVASLKKNV W LDRGTRATFIDFSVYNANIN 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                         DLSRTR-EETAAQVASLKKNVWLDRGTRATFIDFSVYNANIN

Mouse                         DLSRTR-EETAAQLAGLRRNFWLDRGTRAAFIDFSVYNANI

Bovine                        DLSRTR-EETAAQVANLKKNVWLDRGTRAIFIDFTVYNANI

Zebrafish                     DLSRTR-EKSANQLQELKNNLWLDRGTRAVFLDFSIYNGNV

Caenorhabditis elegans        RLPVAGSTEAQSAIATLKANRWIDRGSRAIIVDFALYNANI

Fission yeast                 SITLRG-IKRISYMMGIETTNFFATGF-SFFIILLFFSLLV
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 – 968 Polycystin-2
Topological domain 242 – 468 Extracellular



Literature citations
Function and regulation of TRPP2 ion channel revealed by a gain-of-function mutant.
Arif Pavel M.; Lv C.; Ng C.; Yang L.; Kashyap P.; Lam C.; Valentino V.; Fung H.Y.; Campbell T.; Moeller S.G.; Zenisek D.; Holtzman N.G.; Yu Y.;
Proc. Natl. Acad. Sci. U.S.A. 113:E2363-E2372(2016)
Cited for: FUNCTION; SUBCELLULAR LOCATION; MUTAGENESIS OF PHE-604; PHE-605 AND 736-LEU-ASN-737; CHARACTERIZATION OF VARIANTS PKD2 GLY-414; GLY-420 AND VAL-511; A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).
Veldhuisen B.; Saris J.J.; de Haij S.; Hayashi T.; Reynolds D.M.; Mochizuki T.; Elles R.; Fossdal R.; Bogdanova N.; van Dijk M.A.; Coto E.; Ravine D.; Noerby S.; Verellen-Dumoulin C.; Breuning M.H.; Somlo S.; Peters D.J.M.;
Am. J. Hum. Genet. 61:547-555(1997)
Cited for: VARIANT PKD2 GLY-414; Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.
Magistroni R.; He N.; Wang K.; Andrew R.; Johnson A.; Gabow P.; Dicks E.; Parfrey P.; Torra R.; San-Millan J.L.; Coto E.; Van Dijk M.; Breuning M.; Peters D.; Bogdanova N.; Ligabue G.; Albertazzi A.; Hateboer N.; Demetriou K.; Pierides A.; Deltas C.; St George-Hyslop P.; Ravine D.; Pei Y.;
J. Am. Soc. Nephrol. 14:1164-1174(2003)
Cited for: VARIANTS PKD2 PRO-356; GLY-414; ARG-632 AND GLN-807;
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.