Variant position: 564 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1243 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 VPMAPGPPSVFPPEPEEPEA DQHQPFLFRHASYSSTTSDCE
Mouse VSLAPGPPSAFPPEPEEPEA DQHQSFLFRHASYSSTTSDCE
Rat VSMTPGPPSAFPPEPEEPEA DQHQSFLFRHASYSSTTSDCE
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 – 1243 Serine/threonine-protein kinase WNK4
562 – 564
Human hypertension caused by mutations in WNK kinases.
Wilson F.H.; Disse-Nicodeme S.; Choate K.A.; Ishikawa K.; Nelson-Williams C.; Desitter I.; Gunel M.; Milford D.V.; Lipkin G.W.; Achard J.-M.; Feely M.P.; Dussol B.; Berland Y.; Unwin R.J.; Mayan H.; Simon D.B.; Farfel Z.; Jeunemaitre X.; Lifton R.P.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); DISEASE; VARIANTS PHA2B LYS-562; ALA-564; GLU-565 AND CYS-1185;
Impaired KLHL3-mediated ubiquitination of WNK4 causes human hypertension.
Wakabayashi M.; Mori T.; Isobe K.; Sohara E.; Susa K.; Araki Y.; Chiga M.; Kikuchi E.; Nomura N.; Mori Y.; Matsuo H.; Murata T.; Nomura S.; Asano T.; Kawaguchi H.; Nonoyama S.; Rai T.; Sasaki S.; Uchida S.;
Cell Rep. 3:858-868(2013)
Cited for: UBIQUITINATION; INTERACTION WITH KLHL3; CHARACTERIZATION OF VARIANT PHA2B ALA-564;
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