Results for the protein: Q13698

Results for the Protein: Q13698

209572767

779

CACNA1S

NCBI, UniProt

CAC1S_HUMAN RecName: Full=Voltage-dependent L-type calcium channel subunit alpha-1S; AltName: Full=Calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle; AltName: Full=Voltage-gated calcium channel subunit alpha Cav1.1

Known Diseases associated with this Protein:
  HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1
  MALIGNANT HYPERTHERMIA 5 (MHS5)
  MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
  PERIODIC PARALYSIS HYPOKALEMIC 1 (HOKPP1)

12

6

6

4

8

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Default View: Ion_trans - pfam00520 Ca_chan_IQ - pfam08763	Swiss-Prot Protein: Q13698 Identical to: NP_000060 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ion_trans	pfam00520	1.7e-58	466	660
Ion_trans	pfam00520	7.2e-74	834	1064
Ion_trans	pfam00520	5.1e-71	1152	1380
Ca_chan_IQ	pfam08763	4.5e-14	1516	1546

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_046970	Polymorphism	p.ALA69GLY	N/A
dbSNP	rs3850625	Polymorphism	p.ARG1539CYS	N/A
Swiss-Prot	VAR_001501	Disease	p.ARG1239GLY	Periodic paralysis hypokalemic 1 (HOKPP1)
Swiss-Prot	VAR_054953	Disease	p.ARG528GLY	Periodic paralysis hypokalemic 1 (HOKPP1)
Swiss-Prot	VAR_001500	Disease	p.ARG1086HIS	Malignant hyperthermia 5 (MHS5)
Swiss-Prot	VAR_001502	Disease	p.ARG1239HIS	Periodic paralysis hypokalemic 1 (HOKPP1)
dbSNP	rs13374149	Polymorphism	p.ARG1658HIS	N/A
Swiss-Prot	VAR_001499	Disease	p.ARG528HIS	Periodic paralysis hypokalemic 1 (HOKPP1)
Swiss-Prot	VAR_054954	Disease	p.ARG900SER	Periodic paralysis hypokalemic 1 (HOKPP1)
Swiss-Prot	VAR_046973	Polymorphism	p.GLU1840ASP	N/A
dbSNP	rs12742169	Polymorphism	p.LEU458HIS	N/A
dbSNP	rs12139527	Polymorphism	p.LEU1800SER	N/A
OMIM	114208.0002	Disease	p.ARG1239GLY	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1
OMIM	114208.0004	Disease	p.ARG1086HIS	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
OMIM	114208.0001	Disease	p.ARG1239HIS	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1
OMIM	114208.0003	Disease	p.ARG528HIS	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1
OMIM	114208.0008	Disease	p.ARG897SER	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1
OMIM	114208.0009	Disease	p.VAL876GLU	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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