Variant position: 484 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 FVMKFWMSIVATTMPIPCGG FMPVFVLGAAFGRLVGEIMAM
Mouse FVMKFWMSIVATTMPIPCGG FMPVFVLGAAFGRLVGEIMAM
Rat FVMKFWMSIVATTMPIPCGG FMPVFVLGAAFGRLVGEIMAM
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
479 – 498 Helical
482 – 486 Selectivity filter part_3
484 – 484 Chloride; via amide nitrogen
496 – 496 R -> K. Changed gating of the channel.
499 – 499 G -> KE. Changed gating of the channel.
499 – 499 G -> Q. No effect on gating of the channel.
500 – 500 E -> Q. No effect on channel function.
484 – 502
ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.
Imbrici P.; Maggi L.; Mangiatordi G.F.; Dinardo M.M.; Altamura C.; Brugnoni R.; Alberga D.; Pinter G.L.; Ricci G.; Siciliano G.; Micheli R.; Annicchiarico G.; Lattanzi G.; Nicolotti O.; Morandi L.; Bernasconi P.; Desaphy J.F.; Mantegazza R.; Camerino D.C.;
J. Physiol. (Lond.) 593:4181-4199(2015)
Cited for: VARIANTS MCAD PRO-198 AND LEU-484; CHARACTERIZATION OF VARIANTS MCAD PRO-198 AND LEU-484; VARIANTS MCAR PRO-628 AND GLY-640; CHARACTERIZATION OF VARIANTS MCAR PRO-628 AND GLY-640;
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.