Variant position: 290 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 988 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 GCAVGVGCCFGTPLGGVLFS IEVTSTYFAVRNYWRGFFAAT
Mouse GCAVGVGCCFGTPLGGVLFS IEVTSTYFAVRNYWRGFFAAT
Rat GCAVGVGCCFGTPLGGVLFS IEVTSTYFAVRNYWRGFFAAT
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 – 988 Chloride channel protein 1
269 – 290 Helical
290 – 290 I -> CEFGKLQTVY. Changed chloride channel activity; changed gating of the channel.
291 – 291 E -> D. No effect on calcium channel activity.
291 – 291 E -> L. Loss of calcium channel activity.
282 – 291
Myotonia levior is a chloride channel disorder.
Lehmann-Horn F.; Mailaender V.; Heine R.; George A.L. Jr.;
Hum. Mol. Genet. 4:1397-1402(1995)
Cited for: VARIANT MCAD MET-290; VARIANT MYOTONIA LEVIOR ARG-552; VARIANT TRP-118;
Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel.
Pusch M.; Steinmeyer K.; Koch M.C.; Jentsch T.J.;
Cited for: VARIANT MCAD MET-290; VARIANT MCAR LYS-291; CHARACTERIZATION OF VARIANTS MCAD MET-290; GLN-317 AND LEU-480; CHARACTERIZATION OF VARIANT MCAR LYS-291; CHARACTERIZATION OF VARIANT MYOTONIA LEVIOR ARG-552; MUTAGENESIS OF ILE-290 AND GLU-291;
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