Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35523: Variant p.Gly285Glu

Chloride channel protein 1
Gene: CLCN1
Feedback?
Variant information Variant position: help 285 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 Glycine (G) to Glutamate (E) at position 285 (G285E, p.Gly285Glu). 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 glycine (G) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 MCAR; loss of chloride channel activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 285 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 988 The length of the canonical sequence.
Location on the sequence: help DILTVGCAVGVGCCFGTPLG G VLFSIEVTSTYFAVRNYWRG 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                         DILTVGCAVGVGCCFGTPLGGVLFSIEVTSTYFAVRNYWRG

                              DMLTVGCAVGVGCCFGTPLGGVLFSIEVTSTYFAVRNYWRG

Mouse                         DILTVGCAVGVGCCFGTPLGGVLFSIEVTSTYFAVRNYWRG

Rat                           DILTVGCAVGVGCCFGTPLGGVLFSIEVTSTYFAVRNYWRG

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 1 – 988 Chloride channel protein 1
Intramembrane 269 – 290 Helical
Mutagenesis 290 – 290 I -> CEFGKLQTVY. Changed chloride channel activity; changed gating of the channel.
Mutagenesis 291 – 291 E -> D. No effect on calcium channel activity.
Mutagenesis 291 – 291 E -> L. Loss of calcium channel activity.
Helix 282 – 291



Literature citations
ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.
Kubisch C.; Schmidt-Rose T.; Fontaine B.; Bretag A.H.; Jentsch T.J.;
Hum. Mol. Genet. 7:1753-1760(1998)
Cited for: VARIANTS MCAD/MCAR LEU-236; GLU-285; ALA-286; SER-307; VAL-485 AND ASN-556; CHARACTERIZATION OF VARIANTS MCAD/MCAR LEU-236; GLU-285; ALA-286; SER-307 AND ASN-556; FUNCTION; Decrement of compound muscle action potential is related to mutation type in myotonia congenita.
Colding-Joergensen E.; DunOe M.; Schwartz M.; Vissing J.;
Muscle Nerve 27:449-455(2003)
Cited for: VARIANTS MCAD VAL-128; LYS-193; SER-307 AND LEU-480; VARIANT MCAR GLU-285; VARIANTS THR-437 AND ASN-614;
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.