UniProtKB/Swiss-Prot P35523: Variant p.Arg300Gln

Chloride channel protein 1
Gene: CLCN1
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Variant information Variant position:

300 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Arginine (R) to Glutamine (Q) at position 300 (R300Q, p.Arg300Gln). 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:

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:

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:

No effect on chloride transport. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs118066140 [ dbSNP | Ensembl ]

Sequence information Variant position:

300 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:

GTPLGGVLFSIEVTSTYFAV R NYWRGFFAATFSAFVFRVLA 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                         GTPLGGVLFSIEVTSTYFAVRNYWRGFFAATFSAFVFRVLA

                              GTPLGGVLFSIEVTSTYFAVRNYWRGFFAATFSAFVFRVLA

Mouse                         GTPLGGVLFSIEVTSTYFAVRNYWRGFFAATFSAFVFRVLA

Rat                           GTPLGGVLFSIEVTSTYFAVRNYWRGFFAATFSAFVFRVLA

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
Chain	1 – 988	Chloride channel protein 1
Topological domain	291 – 301	Cytoplasmic
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	299 – 322

Literature citations
Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).
Steinmeyer K.; Lorenz C.; Pusch M.; Koch M.C.; Jentsch T.J.;
EMBO J. 13:737-743(1994)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANT MCAD LEU-480; VARIANT GLN-300; CHARACTERIZATION OF VARIANTS MCAD GLU-230 AND LEU-480; CHARACTERIZATION OF VARIANT GLN-300; FUNCTION; TRANSPORTER ACTIVITY; SUBUNIT; SUBCELLULAR LOCATION; Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.
George A.L. Jr.; Sloan-Brown K.; Fenichel G.M.; Mitchell G.A.; Spiegel R.; Pascuzzi R.M.;
Hum. Mol. Genet. 3:2071-2072(1994)
Cited for: VARIANTS MCAR LEU-167 AND GLN-338; VARIANT GLN-300;

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.