Sequence information
Variant position: 320 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 511 The length of the canonical sequence.
Location on the sequence:
SKAAKDVLGFLRVVRFVRIL
R IFKLTRHFVGLRVLGHTLRA
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 SKAAKDVLGFLRVVRFVRILR IFKLTRHFVGLRVLGHTLRA
Mouse SKAAKDVLGFLRVVRFVRILR IFKLTRHFVGLRVLGHTLRA
Rat SKAAKDVLGFLRVVRFVRILR IFKLTRHFVGLRVLGHTLRA
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 – 511
Potassium voltage-gated channel subfamily C member 1
Transmembrane
309 – 331
Helical; Voltage-sensor; Name=Segment S4
Literature citations
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Muona M.; Berkovic S.F.; Dibbens L.M.; Oliver K.L.; Maljevic S.; Bayly M.A.; Joensuu T.; Canafoglia L.; Franceschetti S.; Michelucci R.; Markkinen S.; Heron S.E.; Hildebrand M.S.; Andermann E.; Andermann F.; Gambardella A.; Tinuper P.; Licchetta L.; Scheffer I.E.; Criscuolo C.; Filla A.; Ferlazzo E.; Ahmad J.; Ahmad A.; Baykan B.; Said E.; Topcu M.; Riguzzi P.; King M.D.; Ozkara C.; Andrade D.M.; Engelsen B.A.; Crespel A.; Lindenau M.; Lohmann E.; Saletti V.; Massano J.; Privitera M.; Espay A.J.; Kauffmann B.; Duchowny M.; Moeller R.S.; Straussberg R.; Afawi Z.; Ben-Zeev B.; Samocha K.E.; Daly M.J.; Petrou S.; Lerche H.; Palotie A.; Lehesjoki A.E.;
Nat. Genet. 47:39-46(2015)
Cited for: INVOLVEMENT IN EPM7; VARIANT EPM7 HIS-320; CHARACTERIZATION OF VARIANT EPM7 HIS-320; FUNCTION; SUBCELLULAR LOCATION;
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.