Variant position: 318 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 901 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 SMAVERGLHSKAKYKKVQLV RLVGMMLLIFARKDQCRYIRD
Mouse SLAVERGLPSKAKYRKVQLV RLVGMMLLIFARKDQCQYIRD
Rat AMAVERGLPSKAKYKKVQLV RLVGMMLLVFAKKDQCQYIRD
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 – 901 Inositol polyphosphate 5-phosphatase OCRL
237 – 563 5-phosphatase
311 – 319
Dent disease with mutations in OCRL1.
Hoopes R.R. Jr.; Shrimpton A.E.; Knohl S.J.; Hueber P.; Hoppe B.; Matyus J.; Simckes A.; Tasic V.; Toenshoff B.; Suchy S.F.; Nussbaum R.L.; Scheinman S.J.;
Am. J. Hum. Genet. 76:260-267(2005)
Cited for: VARIANTS DD2 CYS-318 AND CYS-479;
OCRL1 mutations in patients with Dent disease phenotype in Japan.
Sekine T.; Nozu K.; Iyengar R.; Fu X.J.; Matsuo M.; Tanaka R.; Iijima K.; Matsui E.; Harita Y.; Inatomi J.; Igarashi T.;
Pediatr. Nephrol. 22:975-980(2007)
Cited for: VARIANTS DD2 CYS-318 AND TRP-493;
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
Hichri H.; Rendu J.; Monnier N.; Coutton C.; Dorseuil O.; Poussou R.V.; Baujat G.; Blanchard A.; Nobili F.; Ranchin B.; Remesy M.; Salomon R.; Satre V.; Lunardi J.;
Hum. Mutat. 32:379-388(2011)
Cited for: VARIANTS OCRL SER-242; THR-274; ARG-277; CYS-318; CYS-337; ILE-361; GLY-372; TYR-373; PHE-374; ARG-414; ASN-451; GLY-457; LYS-468; GLY-468; LEU-495; HIS-499; ARG-503; LYS-591; VAL-742 DEL; PRO-797; LEU-801 AND ARG-891; VARIANTS DD2 HIS-354 AND LEU-799;
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.