Sequence information
Variant position: 434 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1236 The length of the canonical sequence.
Location on the sequence:
GHITLESVSNFLKDFLHKDR
D DVNVEIVFLHNISPNLELEA
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 GHITLESVSNFLKDFLHKDRD DVNVEIVFLHNISPNLELEA
Mouse GHITLESVSNFLKDFLHKDRD DVNVEIVFLHNISPNLELEA
Rat GHITLESVSNFLKDFLHKDRD DVNVEIVFLHNISPNLELEA
Bovine GHITLESVSNFLKDFLHKDRD DVNVEIVFLHNISPNLELEA
Rabbit GHITLESVSNFLKDFLHKDRD DVNVEIVFLHNISPNLELEA
Chicken GHITLESVSNFLKDFLHKDRD DVNVEIVFLHNISPNLELEA
Xenopus laevis GHITLESVSNFLKDFLHKDRD DVNVEIVFLHNISPNLELEA
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
Chain
1 – 1236
Calcium-activated potassium channel subunit alpha-1
Topological domain
389 – 1236
Cytoplasmic
Domain
415 – 558
RCK N-terminal
Metal binding
439 – 439
Magnesium
Alternative sequence
169 – 1236
Missing. In isoform 6.
Literature citations
Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder.
Du W.; Bautista J.F.; Yang H.; Diez-Sampedro A.; You S.-A.; Wang L.; Kotagal P.; Lueders H.O.; Shi J.; Cui J.; Richerson G.B.; Wang Q.K.;
Nat. Genet. 37:733-738(2005)
Cited for: INVOLVEMENT IN PNKD3; VARIANT PNKD3 GLY-434;
Disclaimer:
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.