Variant position: 426 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 TGLASVEAYSYKTNEWFFVA PMNTRRSSVGVGVVEGKLYAV
Mouse TGLASVEAYSYKTNEWFFVA PMNTRRSSVGVGVVEGKLYAV
Rat TGLASVEAYSYKTNEWFFVA PMNTRRSSVGVGVVEGKLYAV
Bovine TGLASVEAYSYKTNEWFFVA PMNTRRSSVGVGVVEGKLYAV
Zebrafish TGLSSVEAYNPKANEWMFVA PMNTRRSSVGVGVVDGKLYAV
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
396 – 441 Kelch 3
433 – 433 Phosphoserine; by PKA
433 – 433 S -> ED. Phosphomimetic mutant that shows decreased interaction with WNK4.
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.
Louis-Dit-Picard H.; Barc J.; Trujillano D.; Miserey-Lenkei S.; Bouatia-Naji N.; Pylypenko O.; Beaurain G.; Bonnefond A.; Sand O.; Simian C.; Vidal-Petiot E.; Soukaseum C.; Mandet C.; Broux F.; Chabre O.; Delahousse M.; Esnault V.; Fiquet B.; Houillier P.; Bagnis C.I.; Koenig J.; Konrad M.; Landais P.; Mourani C.; Niaudet P.; Probst V.; Thauvin C.; Unwin R.J.; Soroka S.D.; Ehret G.; Ossowski S.; Caulfield M.; Bruneval P.; Estivill X.; Froguel P.; Hadchouel J.; Schott J.J.; Jeunemaitre X.;
Nat. Genet. 44:456-460(2012)
Cited for: VARIANTS PHA2D GLY-228; MET-361; TRP-362; TRP-384; VAL-398; LEU-410; LEU-426; ASN-432; GLY-433; VAL-500; HIS-528; CYS-528 AND LYS-529; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; INTERACTION WITH SLC12A3;
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.