Variant position: 260 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 746 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 REVLSAAAAAGVSVAFGAPI GGVLFSLEEVSYYFPLKTLWR
Mouse REVLSAAAAAGVSVAFGAPI GGVLFSLEEVSYYFPLKTLWR
Rat REVLSAAAAAGVSVAFGAPI GGVLFSLEEVSYYFPLKTLWR
Pig REVLSAAAAAGVSVAFGAPI GGVLFSLEEVSYYFPLKTLWR
Rabbit REVLSAAAAAGVSVAFGAPI GGVLFSLEEVSYYFPLKTLWR
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 – 746 H(+)/Cl(-) exchange transporter 5
258 – 266 Helical
268 – 268 Mediates proton transfer from the protein to the inner aqueous phase
Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy.
Tosetto E.; Graziotto R.; Artifoni L.; Nachtigal J.; Cascone C.; Conz P.; Piva M.; Dell'Aquila R.; De Paoli Vitali E.; Citron L.; Nalesso F.; Antonello A.; Vertolli U.; Zagatti R.; Lupo A.; D'Angelo A.; Anglani F.; Gambaro G.;
J. Hum. Genet. 51:25-30(2006)
Cited for: VARIANT NPHL2 VAL-260;
Phenotypic and genetic heterogeneity in Dent's disease -- the results of an Italian collaborative study.
Tosetto E.; Ghiggeri G.M.; Emma F.; Barbano G.; Carrea A.; Vezzoli G.; Torregrossa R.; Cara M.; Ripanti G.; Ammenti A.; Peruzzi L.; Murer L.; Ratsch I.M.; Citron L.; Gambaro G.; D'angelo A.; Anglani F.;
Nephrol. Dial. Transplant. 21:2452-2463(2006)
Cited for: VARIANTS NPHL2 LEU-244; VAL-260; GLU-267 DEL; CYS-272 AND LYS-340;
Family history may be misleading in the diagnosis of Dent's disease.
Anglani F.; Bernich P.; Tosetto E.; Cara M.; Lupo A.; Nalesso F.; D'Angelo A.; Gambaro G.;
Urol. Res. 34:61-63(2006)
Cited for: VARIANTS NPHL2 LEU-244 AND VAL-260;
Heterogeneity in the processing of CLCN5 mutants related to Dent disease.
Grand T.; L'Hoste S.; Mordasini D.; Defontaine N.; Keck M.; Pennaforte T.; Genete M.; Laghmani K.; Teulon J.; Lourdel S.;
Hum. Mutat. 32:476-483(2011)
Cited for: CHARACTERIZATION OF VARIANTS NPHL2 PRO-225; VAL-260; CYS-272; PHE-278; LYS-340; ARG-513; GLU-546 AND GLY-547; CHARACTERIZATION OF VARIANT XLRHR LEU-244;
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.