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:
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 LRASNFHYHELKHIVFVGSI EYLKREWETLHNFPKVSILPG
Mouse LRASNFHYHELKHIVFVGSI EYLKREWETLHNFPKVSILPG
Rat LRASNFHYHELKHIVFVGSI EYLKREWETLHNFPKVSILPG
Bovine LRASNFHYHELKHIVFVGSI EYLKREWETLHNFPKVSILPG
Rabbit LRASNFHYHELKHIVFVGSI EYLKREWETLHNFPKVSILPG
Chicken LRASNFHYHELKHIVFVGSL EYLRREWETLHNFPKVSILPG
Xenopus laevis LRASNFHYHELKHIVFVGSL DYIKREWETLHNFPKVSILPG
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 – 1236 Calcium-activated potassium channel subunit alpha-1
389 – 1236 Cytoplasmic
169 – 1236 Missing. In isoform 6.
883 – 893
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;
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.