Variant position: 190 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 VLILFSALFCHLISPQAVGS GIPEMKTILRGVVLKEYLTMK
Mouse ILILFSALFCQLISPQAVGS GIPEMKTILRGVVLKEYLTLK
Rat ILILFSALFCQLISPQAVGS GIPEMKTILRGVVLKEYLTLK
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
184 – 195 Helical
188 – 192 Selectivity filter part_1
189 – 189 Chloride
Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene.
Shalata A.; Furman H.; Adir V.; Adir N.; Hujeirat Y.; Shalev S.A.; Borochowitz Z.U.;
Muscle Nerve 41:464-469(2010)
Cited for: VARIANT MCAR SER-190;
Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients.
Ulzi G.; Lecchi M.; Sansone V.; Redaelli E.; Corti E.; Saccomanno D.; Pagliarani S.; Corti S.; Magri F.; Raimondi M.; D'Angelo G.; Modoni A.; Bresolin N.; Meola G.; Wanke E.; Comi G.P.; Lucchiari S.;
J. Neurol. Sci. 318:65-71(2012)
Cited for: VARIANTS MCAR ARG-164; ARG-197; ILE-533; LEU-536; SER-845 AND GLU-947; CHARACTERIZATION OF VARIANTS MCAR ARG-164; SER-190; ARG-197 AND SER-845; FUNCTION;
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;
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.