Sequence information
Variant position: 884 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:
LRASNFHYHELKHIVFVGSI
E YLKREWETLHNFPKVSILPG
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 LRASNFHYHELKHIVFVGSIE YLKREWETLHNFPKVSILPG
Mouse LRASNFHYHELKHIVFVGSIE YLKREWETLHNFPKVSILPG
Rat LRASNFHYHELKHIVFVGSIE YLKREWETLHNFPKVSILPG
Bovine LRASNFHYHELKHIVFVGSIE YLKREWETLHNFPKVSILPG
Rabbit LRASNFHYHELKHIVFVGSIE YLKREWETLHNFPKVSILPG
Chicken LRASNFHYHELKHIVFVGSLE YLRREWETLHNFPKVSILPG
Xenopus laevis LRASNFHYHELKHIVFVGSLD YIKREWETLHNFPKVSILPG
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
Alternative sequence
169 – 1236
Missing. In isoform 6.
Helix
883 – 889
Literature citations
De novo KCNMA1 mutations in children with early-onset paroxysmal dyskinesia and developmental delay.
Zhang Z.B.; Tian M.Q.; Gao K.; Jiang Y.W.; Wu Y.;
Mov. Disord. 30:1290-1292(2015)
Cited for: INVOLVEMENT IN PNKD3; VARIANTS PNKD3 LYS-884 AND SER-1053;
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.