Variant position: 1592 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 SIGICFFCSYIIISFLIVVN MYIAIILENFNVATEESSEPL
Mouse SIGICFFCSYIIISFLIVVN MYIAIILENFNVATEESSEPL
Rat SIGICFFCSYIIISFLIVVN MYIAIILENFNVATEESSEPL
Horse SIGICFFCSYIIISFLIVVN MYIAIILENFNVATEESSDPL
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.
A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis.
Rojas C.V.; Wang J.; Schwartz L.S.; Hoffman E.P.; Powell B.R.; Brown R.H. Jr.;
Cited for: VARIANT HYPP VAL-1592;
Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis.
Xiuhai G.; Weiping W.; Ke Z.; Hongbin W.; Yiling S.; Yanling M.;
Cell. Mol. Neurobiol. 28:653-661(2008)
Cited for: VARIANTS NKPP GLN-675 AND VAL-1592; VARIANT ILE-781;
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.