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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35523: Variant p.Phe413Cys

Chloride channel protein 1
Gene: CLCN1
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Variant information Variant position: help 413 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 Phenylalanine (F) to Cysteine (C) at position 413 (F413C, p.Phe413Cys). 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 aromatic (F) to medium size and polar (C) 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. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 413 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 YPGIVTFVIASFTFPPGMGQ F MAGELMPREAISTLFDNNTW 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                         YPGIVTFVIASFTFPPGMGQFMAGELMPREAISTLFDNNTW

                              YPGIVTFIIASFTFPPGIGQFMAGELMPREAISTLFDNNTW

Mouse                         YPGIVTFVIASLTFPPGMGQFMAGELMPREAISTLFDNNTW

Rat                           YPGIVTFVIASLTFPPGMGQFMAGELMPREAISTLFDNNTW
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
Topological domain 409 – 414 Extracellular
Helix 411 – 413



Literature citations
The skeletal muscle chloride channel in dominant and recessive human myotonia.
Koch M.C.; Steinmeyer K.; Lorenz C.; Ricker K.; Wolf F.; Otto M.; Zoll B.; Lehmann-Horn F.; Grzeschik K.-H.; Jentsch T.J.;
Science 257:797-800(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 171-988; VARIANT MCAR CYS-413; Genomic organization of the human muscle chloride channel ClC-1 and analysis of novel mutations leading to Becker-type myotonia.
Lorenz C.; Meyer-Kleine C.; Steinmeyer K.; Koch M.C.; Jentsch T.J.;
Hum. Mol. Genet. 3:941-946(1994)
Cited for: VARIANTS MCAR ILE-327; CYS-413 AND SER-496; CHARACTERIZATION OF VARIANTS MCAR ILE-327 AND SER-496; FUNCTION; Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.
Meyer-Kleine C.; Steinmeyer K.; Ricker K.; Jentsch T.J.; Koch M.C.;
Am. J. Hum. Genet. 57:1325-1334(1995)
Cited for: VARIANTS MCAR CYS-105; GLY-136; GLY-165; LEU-167; LYS-291; THR-329; CYS-413; ARG-482 AND VAL-485; VARIANT MCAD GLN-317;
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.