Variant position: 516 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 CITPGLYAMVGAAACLGGVT RMTVSLVVIMFELTGGLEYIV
Mouse CITPGLYAMVGAAACLGGVT RMTVSLVVIMFELTGGLEYIV
Rat CITPGLYAMVGAAACLGGVT RMTVSLVVIMFELTGGLEYIV
Pig CITPGLYAMVGAAACLGGVT RMTVSLVVIMFELTGGLEYIV
Rabbit CITPGLYAMVGAAACLGGVT RMTVSLVVIMFELTGGLEYIV
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
515 – 517 Note=Loop between two helices
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-221; LEU-244; ALA-267; GLY-270; ASP-462; ARG-513; TRP-516; ASN-545; GLU-546 AND SER-657;
Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure.
Smith A.J.; Reed A.A.; Loh N.Y.; Thakker R.V.; Lippiat J.D.;
Am. J. Physiol. 296:F390-F397(2009)
Cited for: CHARACTERIZATION OF VARIANTS NPHL2 VAL-57; ARG-270; GLU-513; TRP-516 AND ASP-527; CHARACTERIZATION OF VARIANTS LMWPHN PRO-280 AND LYS-524; SUBCELLULAR LOCATION;
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.