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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35523: Variant p.Gly190Ser

Chloride channel protein 1
Gene: CLCN1
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Variant information Variant position: help 190
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Serine (S) at position 190 (G190S, p.Gly190Ser).
Physico-chemical properties: help Change from glycine (G) to small size and polar (S)
BLOSUM score: help 0
Variant description: help In MCAR; loss of chloride channel activity.
Other resources: help


Sequence information Variant position: help 190
Protein sequence length: help 988
Location on the sequence: help VLILFSALFCHLISPQAVGS G IPEMKTILRGVVLKEYLTMK
Residue conservation: help 
Human                         VLILFSALFCHLISPQAVGSGIPEMKTILRGVVLKEYLTMK

                              TLILFSAVFCHLISPQAVGSGIPEMKTILRGVILKEYLTLK

Mouse                         ILILFSALFCQLISPQAVGSGIPEMKTILRGVVLKEYLTLK

Rat                           ILILFSALFCQLISPQAVGSGIPEMKTILRGVVLKEYLTLK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 988 Chloride channel protein 1
Intramembrane 190 – 195 Helical
Motif 188 – 192 Selectivity filter part_1
Binding site 189 – 189



Literature citations
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;
Disclaimer: 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.