Variant position: 500 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 898 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 WFPDGIHTDSSTYRIVPGGY AVVGAAALAGAVTHTVSTAVI
Mouse WFPDGIHTDSSTYRIVPGGY AVVGAAALAGAVTHTVSTAVI
Rat WFPDGIHTDSSTYRIVPGGY AVVGAAALAGAVTHTVSTAVI
Rabbit WFPDGIHTDSSTYRIVPGGY AVVGAAALAGAVTHTVSTAVI
Drosophila TFPHGVRYGGRLSPIMPGGY AVVGAAAFSGSVTHTVSVAVI
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
2 – 898 Chloride channel protein 2
497 – 511 Helical
486 – 898 Missing. In isoform 2.
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study.
Depienne C.; Bugiani M.; Dupuits C.; Galanaud D.; Touitou V.; Postma N.; van Berkel C.; Polder E.; Tollard E.; Darios F.; Brice A.; de Die-Smulders C.E.; Vles J.S.; Vanderver A.; Uziel G.; Yalcinkaya C.; Frints S.G.; Kalscheuer V.M.; Klooster J.; Kamermans M.; Abbink T.E.; Wolf N.I.; Sedel F.; van der Knaap M.S.;
Lancet Neurol. 12:659-668(2013)
Cited for: VARIANTS LKPAT 144-LEU-ILE-145 DEL AND VAL-500; CHARACTERIZATION OF VARIANTS LKPAT 144-LEU-ILE-145 DEL AND VAL-500;
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