Variant position: 420 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 968 The length of the canonical sequence.
Location on the sequence:
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 EETAAQVASLKKNVWLDRGT RATFIDFSV-----YNANINLFCVV-----------R
Mouse EETAAQLAGLRRNFWLDRGT RAAFIDFSV-----YNANINL
Bovine EETAAQVANLKKNVWLDRGT RAIFIDFTV-----YNANINL
Zebrafish EKSANQLQELKNNLWLDRGT RAVFLDFSI-----YNGNVNL
Caenorhabditis elegans TEAQSAIATLKANRWIDRGS RAIIVDFAL-----YNANINL
Fission yeast KRATTTVTTSTSDSITLRGI KRISYMMGIETTNFFATGFSF
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.
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;
PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease.
Stekrova J.; Reiterova J.; Merta M.; Damborsky J.; Zidovska J.; Kebrdlova V.; Kohoutova M.;
Nephrol. Dial. Transplant. 19:1116-1122(2004)
Cited for: VARIANTS PKD2 GLN-306 AND GLY-420; VARIANT PRO-28;
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