Variant position: 553 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 587 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 CAVNGLLYVVGGDDGSCNLA SVEYYNPVTDKWTLLPTNMST
Mouse CAVNGLLYVVGGDDGSCNLA SVEYYNPVTDKWTLLPTNMST
Rat CAVNGLLYVVGGDDGSCNLA SVEYYNPVTDKWTLLPTNMST
Bovine CAVNGLLYVVGGDDGSCNLA SVEYYNPVTDKWTLLPTNMST
Zebrafish CAINGLLYVIGGDDGSCNLS SVEYYDPAADKWSLIPTNMSN
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 – 587 Kelch-like protein 3
539 – 585 Kelch 6
Familial hyperkalemia and hypertension (FHHt) and KLHL3: Description of a family with a new recessive mutation (S553L) compared to a family with a dominant mutation, Q309R, with analysis of urinary sodium chloride cotransporter.
Kliuk-Ben Bassat O.; Carmon V.; Hanukoglu A.; Ganon L.; Massalha E.; Holtzman E.J.; Farfel Z.; Mayan H.;
Cited for: VARIANTS PHA2D ARG-309 AND LEU-553;
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