Variant position: 559 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1836 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 EAHQKCPPWWYKCAHKVLIW NCCAPWLKFKNIIHLIVMDPF
Mouse EAHQKCPPWWYKCAHKVLIW NCCAPWVKFKHIILLIVMDPF
Rat EAHQKCPPWWYKCAHKVLIW NCCAPWVKFKHIIYLIVMDPF
Horse EAHQKCPPWWYKCAHKVLIW NCCTPWVKFKNIIHLIVMDPF
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 – 1836 Sodium channel protein type 4 subunit alpha
445 – 578 Cytoplasmic
Primary structure of the adult human skeletal muscle voltage-dependent sodium channel.
George A.L. Jr.; Komisarof J.; Kallen R.G.; Barchi R.L.;
Ann. Neurol. 31:131-137(1992)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANTS GLY-524; ASP-559 AND ASP-1376;
Myasthenic syndrome caused by mutation of the SCN4A sodium channel.
Tsujino A.; Maertens C.; Ohno K.; Shen X.-M.; Fukuda T.; Harper C.M.; Cannon S.C.; Engel A.G.;
Proc. Natl. Acad. Sci. U.S.A. 100:7377-7382(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; SUBCELLULAR LOCATION; VARIANT CMS16 GLU-1442; VARIANTS LEU-246; GLY-524 AND ASP-559; CHARACTERIZATION OF VARIANT CMS16 GLU-1442; CHARACTERIZATION OF VARIANT LEU-246;
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.