Variant position: 656 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 KSANRESR----ILINPGNHLKIQ EGTLGFFIASDAKEVKRAFFY
Mouse KSANRESRSRKRILINPGNHLKIQ EGTLGFFIASDAKEVKR
Rat KSANRESRSRKRILINPGNHLKIQ EGTLGFFIASDAKEVKR
Bovine KSANRESR----ILINPGNHLKIQ EGTLGFFIASDAKEVKR
Rabbit KSANRESR----ILINPGNHLKIQ EGTLGFFIASDAKEVKR
Chicken KSEKRESS----ILINPGNHVKIQ EGTLGFFIASDAKEVKR
Xenopus laevis KSEKGESR----ILINPGNHMKIK EGTLGFFIASDAKEVKR
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.
643 – 643 R -> RSRKR. In isoform 3.
De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity.
Li X.; Poschmann S.; Chen Q.; Fazeli W.; Oundjian N.J.; Snoeijen-Schouwenaars F.M.; Fricke O.; Kamsteeg E.J.; Willemsen M.; Wang Q.K.;
Eur. J. Hum. Genet. 26:220-229(2018)
Cited for: FUNCTION; INVOLVEMENT IN EIG16; VARIANT EIG16 SER-1053; CHARACTERIZATION OF VARIANT EIG16 SER-1053; VARIANTS ASN-518; ALA-656 AND SER-1217; CHARACTERIZATION OF VARIANTS ASN-518; ALA-656 AND SER-1217;
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.