Variant position: 545 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 810 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 GNLSAENNRYIVIDGLRELK RLKVLRLKSNLSKLPQVVTDV
Mouse GNLSAENNRYIVIDGLRELK RLKVLRLKSNLSKLPQVVTDV
Rat GNLSAENNRYIVIDGLRELK RLKVLRLKSNLSKLPQVVTDV
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 – 810 Volume-regulated anion channel subunit LRRC8A
346 – 810 Cytoplasmic
543 – 565 LRR 7
Deficient LRRC8A-dependent volume-regulated anion channel activity is associated with male infertility in mice.
Bao J.; Perez C.J.; Kim J.; Zhang H.; Murphy C.J.; Hamidi T.; Jaubert J.; Platt C.D.; Chou J.; Deng M.; Zhou M.H.; Huang Y.; Gaitan-Penas H.; Guenet J.L.; Lin K.; Lu Y.; Chen T.; Bedford M.T.; Dent S.Y.; Richburg J.H.; Estevez R.; Pan H.L.; Geha R.S.; Shi Q.; Benavides F.;
JCI Insight 3:0-0(2018)
Cited for: VARIANT HIS-545;
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