Variant position: 1053 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 ACGTAFAVSVLDSLMSATYF NDNILTLIRTLVTGGATPELE
Mouse ACGTAFAVSVLDSLMSATYF NDNILTLIRTLVTGGATPELE
Rat ACGTAFAVSVLDSLMSATYF NDNILTLIRTLVTGGATPELE
Bovine ACGTAFAVSVLDSLMSATYF NDNILTLIRTLVTGGATPELE
Rabbit ACGTAFAVSVLDSLMSATYF NDNILTLIRTLVTGGATPELE
Chicken ACGTAFAVSVLDSLMSATYF NDNILTLIRTLVTGGATPELE
Xenopus laevis ACGTAFAVSVLDSLMSATYF NDNILTLIRTLVTGGATPELE
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.
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;
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.