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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P48547: Variant p.Arg320His

Voltage-gated potassium channel KCNC1
Gene: KCNC1
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Variant information Variant position: help 320 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Histidine (H) at position 320 (R320H, p.Arg320His). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In EPM7; causes a dominant-negative loss of current upon membrane depolarization. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 320 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 511 The length of the canonical sequence.
Location on the sequence: help 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         SKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRA

Mouse                         SKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRA

Rat                           SKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRA
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 511 Voltage-gated potassium channel KCNC1
Transmembrane 309 – 331 Helical; Voltage-sensor; Name=Segment S4
Helix 317 – 320



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; TRANSPORTER ACTIVITY; 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.