Variant position: 82 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 YGHHKEQFSDREQDIGMPKK TGSSSTVDSKDEDHYSKCQDC
Mouse YGHQKEQYSYKAQDGGMPKK MGSSSTMDSLDEDHYSKCQDC
Rat YGHHKEQYSYQAQDRGIPKK TDSSSTVDSLDEDHYSKCQDC
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
1 – 118 Cytoplasmic
Clinical, molecular, and functional characterization of CLCN1 mutations in three families with recessive myotonia congenita.
Portaro S.; Altamura C.; Licata N.; Camerino G.M.; Imbrici P.; Musumeci O.; Rodolico C.; Conte Camerino D.; Toscano A.; Desaphy J.F.;
NeuroMolecular Med. 17:285-296(2015)
Cited for: VARIANTS MCAR ALA-82; SER-190; VAL-270 AND TRP-453; CHARACTERIZATION OF VARIANTS MCAR ALA-82; SER-190; VAL-270 AND TRP-453; FUNCTION;
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