Variant position: 582 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 QGADCITPGLYAMVGAAACL GGVTRMTVSLVVIMFELTGGL
Mouse QGADCITPGLYAMVGAAACL GGVTRMTVSLVVIMFELTGGL
Rat QGADCITPGLYAMVGAAACL GGVTRMTVSLVVIMFELTGGL
Pig QGADCITPGLYAMVGAAACL GGVTRMTVSLVVIMFELTGGL
Rabbit QGADCITPGLYAMVGAAACL GGVTRMTVSLVVIMFELTGGL
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
570 – 584 Helical
Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.
Lloyd S.E.; Guenther W.; Pearce S.H.S.; Thomson A.; Bianchi M.L.; Bosio M.; Craig I.W.; Fisher S.E.; Scheinman S.J.; Wrong O.; Jentsch T.J.; Thakker R.V.;
Hum. Mol. Genet. 6:1233-1239(1997)
Cited for: VARIANTS NPHL2 HIS-100 INS; VAL-127; ARG-582 AND ASP-597;
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