Variant position: 384 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 TAWIYTSEKDLNGSSHWGII ATYSGAGYYLDLSRT-REETAA
Mouse TAWMYTSEKELNGSSHWGII ASYSGAGYYLDLSRT-REETA
Bovine TAWIYTSEKDLNGSSHWGMI ATYSGAGYYLDLSRT-REETA
Zebrafish TAWRFKDESSLGESSYWGQV STYGGGGYYQDLSRT-REKSA
Caenorhabditis elegans DAFIYATAKELENLKTVGTI ASYGGGGFVQRLPVAGSTEAQ
Fission yeast TPSTLVD---------LGIH ANVALAKRGIDLGSL-AKRAT
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
1 – 968 Polycystin-2
242 – 468 Extracellular
375 – 375 N-linked (GlcNAc...) asparagine
Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).
Hoefele J.; Mayer K.; Scholz M.; Klein H.G.;
Nephrol. Dial. Transplant. 26:2181-2188(2011)
Cited for: VARIANT PKD2 PRO-384;
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