Variant position: 1239 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1873 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 CGNVDPDESARISSAFFRLF RVMRLIKLLSRAEGVRTLLWT
Mouse CGNVDPDESARISSAFFRLF RVMRLVKLLNRAEGVRTLLWT
Rat CGNVDPDESARISSAFFRLF RVMRLIKLLSRAEGVRTLLWT
Rabbit CGNVDPDESARISSAFFRLF RVMRLIKLLSRAEGVRTLLWT
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 – 1873 Voltage-dependent L-type calcium channel subunit alpha-1S
1232 – 1250 Helical; Name=S4 of repeat IV
1105 – 1384 IV
Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.
Ptacek L.J.; Tawil R.; Griggs R.C.; Engel A.G.; Layzer R.B.; Kwiecinski H.; McManis P.G.; Santiago L.; Moore M.; Fouad G.; Bradley P.; Leppert M.F.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1200-1300; VARIANTS HOKPP1 GLY-1239 AND HIS-1239;
The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.
Kim J.-B.; Kim M.-H.; Lee S.J.; Kim D.-J.; Lee B.C.;
J. Korean Med. Sci. 22:946-951(2007)
Cited for: VARIANTS HOKPP1 HIS-528; HIS-1239 AND GLY-1239;
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
Matthews E.; Labrum R.; Sweeney M.G.; Sud R.; Haworth A.; Chinnery P.F.; Meola G.; Schorge S.; Kullmann D.M.; Davis M.B.; Hanna M.G.;
Cited for: VARIANTS HOKPP1 GLY-528; HIS-528; SER-900; GLY-1239 AND HIS-1239;
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.