Variant position: 230 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 KAFVAKVVALTAGLGSGIPV GKEGPFVHIASICAAVLSKFM
Mouse KAFVAKVVALTAGLGSGIPV GKEGPFVHIASICAAVLSKFM
Rat KAFVAKVVALTAGLGSGIPV GKEGPFVHIASICAAVLSKFM
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
229 – 246 Helical
230 – 234 Selectivity filter part_2
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;
Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).
George A.L. Jr.; Crackower M.A.; Abdalla J.A.; Hudson A.J.; Ebers G.C.;
Nat. Genet. 3:305-310(1993)
Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANT MCAD GLU-230;
A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel.
Fahlke C.; Beck C.L.; George A.L. Jr.;
Proc. Natl. Acad. Sci. U.S.A. 94:2729-2734(1997)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT MCAD GLU-230;
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