Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51788: Variant p.Arg235Gln

Chloride channel protein 2
Gene: CLCN2
Feedback?
Variant information Variant position: help 235 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Glutamine (Q) at position 235 (R235Q, p.Arg235Gln). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In EJM8; associated with disease susceptibility; the mutant channel has accelerated deactivation rates compared to wild-type, but normal activation and peak current. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 235 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 898 The length of the canonical sequence.
Location on the sequence: help CAALLSKFLSLFGGIYENES R NTEMLAAACAVGVGCCFAAP 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         CAALLSKFLSLFGGIYENESRNTEMLAAACAVGVGCCFAAP

Mouse                         CAALLSKFLSLFGGIYEHESRNTEMLAAACAVGVGCCFAAP

Rat                           CAALLSKFLSLFGGIYENESRNTEMLAAACAVGVGCCFAAP

Rabbit                        CAALLSKFLSLFGGIYENESRNTEMLAAACAVGVGCCFAAP

Drosophila                    VAQLLSKLVTSFQGIYENESRNSEMLAAACAVGVGACFAAP
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 2 – 898 Chloride channel protein 2
Alternative sequence 1 – 359 Missing. In isoform 2.
Helix 233 – 252



Literature citations
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.
Saint-Martin C.; Gauvain G.; Teodorescu G.; Gourfinkel-An I.; Fedirko E.; Weber Y.G.; Maljevic S.; Ernst J.-P.; Garcia-Olivares J.; Fahlke C.; Nabbout R.; LeGuern E.; Lerche H.; Christophe Poncer J.; Depienne C.;
Hum. Mutat. 30:397-405(2009)
Cited for: INVOLVEMENT IN EJM8; INVOLVEMENT IN EIG11; VARIANT EJM8 GLN-235; VARIANT EIG11 GLN-577; VARIANT CYS-644; CHARACTERIZATION OF VARIANT EJM8 GLN-235; CHARACTERIZATION OF VARIANT EIG11 GLN-577; CHARACTERIZATION OF VARIANT CYS-644; 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.