Variant position: 291 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 816 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 AVSSGLSLGKEGPLVHVACC CGNILCHCFNKYRKNEAKRRE
Mouse AVSSGLSLGKEGPLVHVACC CGNILCHCFNKYRKNEAKRRE
Rat AVSSGLSLGKEGPLVHVACC CGNILCHCFNKYRKNEAKRRE
Pig AVSSGLSLGKEGPLVHVACC CGNILCHCFNKYRKNEAKRRE
Rabbit AVSSGLSLGKEGPLVHVACC CGNILCHRFNKYRKNEAKRRE
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 – 816 H(+)/Cl(-) exchange transporter 5
281 – 300 Helical
281 – 281 Mediates proton transfer from the outer aqueous phase to the interior of the protein; involved in linking H(+) and Cl(-) transport
281 – 281 E -> A. Abolishes proton transport, but not chloride transport.
Evidence for genetic heterogeneity in Dent's disease.
Hoopes R.R. Jr.; Raja K.M.; Koich A.; Hueber P.; Reid R.; Knohl S.J.; Scheinman S.J.;
Kidney Int. 65:1615-1620(2004)
Cited for: VARIANTS NPHL2 ARG-291; LEU-314; ALA-337; GLY-340; ASP-532; ARG-583; TRP-586; ASN-615; GLU-616 AND SER-727;
Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing.
Grand T.; Mordasini D.; L'Hoste S.; Pennaforte T.; Genete M.; Biyeyeme M.J.; Vargas-Poussou R.; Blanchard A.; Teulon J.; Lourdel S.;
Kidney Int. 76:999-1005(2009)
Cited for: VARIANTS NPHL2 ASP-249; LEU-273; ALA-282 AND PRO-539; CHARACTERIZATION OF VARIANTS NPHL2 ASP-249; ARG-270; LEU-273; ALA-282; ARG-289; ARG-291 AND PRO-539;
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.