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:
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 GTPLGGVLFSIEVTSTYFAV RNYWRGFFAATFSAFVFRVLA
Mouse GTPLGGVLFSIEVTSTYFAV RNYWRGFFAATFSAFVFRVLA
Rat GTPLGGVLFSIEVTSTYFAV RNYWRGFFAATFSAFVFRVLA
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
1 – 988 Chloride channel protein 1
291 – 301 Cytoplasmic
290 – 290 I -> CEFGKLQTVY. Changed chloride channel activity; changed gating of the channel.
291 – 291 E -> D. No effect on calcium channel activity.
291 – 291 E -> L. Loss of calcium channel activity.
299 – 322
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; SUBCELLULAR LOCATION; SUBUNIT;
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;
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.