Variant position: 375 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 YGDVYAKTTLGRLFMVFFIL GGLAMFASYVPEIIELIGNRK
Mouse YGDVYAKTTLGRLFMVFFIL GGLAMFASYVPEIIELIGNRK
Rat YGDVYAKTTLGRLFMVFFIL GGLAMFASYVPEIIELIGNRK
Bovine YGDVYAKTTLGRLFMVFFIL GGLAMFASYVPEIIELIGNRK
Rabbit YGDVYAKTTLGRLFMVFFIL GGLAMFASYVPEIIELIGNRK
Chicken YGDVYAKTTLGRLFMVFFIL GGLAMFASYVPEIIELIGNRK
Xenopus laevis YGDVYAKTTLGRLFMVFFIL GGLAMFASYVPEIIELIGNRK
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
368 – 388 Helical; Name=Segment S6
169 – 1236 Missing. In isoform 6.
380 – 380 F -> A. Loss of function.
381 – 381 A -> S. Activated at more negative voltages. No effect on inhibition by HMIMP.
384 – 384 V -> I. No effect on activation voltage. No effect on inhibition by HMIMP.
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Liang L.; Li X.; Moutton S.; Schrier Vergano S.A.; Cogne B.; Saint-Martin A.; Hurst A.C.E.; Hu Y.; Bodamer O.; Thevenon J.; Hung C.Y.; Isidor B.; Gerard B.; Rega A.; Nambot S.; Lehalle D.; Duffourd Y.; Thauvin-Robinet C.; Faivre L.; Bezieau S.; Dure L.S.; Helbling D.C.; Bick D.; Xu C.; Chen Q.; Mancini G.M.S.; Vitobello A.; Wang Q.K.;
Hum. Mol. Genet. 28:2937-2951(2019)
Cited for: INVOLVEMENT IN LIWAS; VARIANT LIWAS ARG-375; CHARACTERIZATION OF VARIANT LIWAS ARG-375; FUNCTION;
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.