Results for the protein: Q13936

Results for the Protein: Q13936

308153651

775

CACNA1C

NCBI, UniProt

CAC1C_HUMAN RecName: Full=Voltage-dependent L-type calcium channel subunit alpha-1C; AltName: Full=Calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle; AltName: Full=Voltage-gated calcium channel subunit alpha Cav1.2

Known Diseases associated with this Protein:
  BRUGADA SYNDROME 3
  BRUGADA SYNDROME 3 (BRGDA3)
  TIMOTHY SYNDROME
  TIMOTHY SYNDROME (TS)

8

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4

3

10

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Default View: Ion_trans - pfam00520 Ca_chan_IQ - pfam08763	Swiss-Prot Protein: Q13936 Identical to: NP_955630 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ion_trans	pfam00520	3.5e-61	558	752
Ion_trans	pfam00520	5.9e-74	955	1185
Ion_trans	pfam00520	4e-81	1273	1523
Ca_chan_IQ	pfam08763	1.5e-17	1659	1690

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs61738859	Polymorphism	p.ALA48ASP	N/A
Swiss-Prot	VAR_001496	Polymorphism	p.ALA2169THR	N/A
Swiss-Prot	VAR_001495	Polymorphism	p.ALA752THR	N/A
Swiss-Prot	VAR_044039	Disease	p.ALA39VAL	Brugada syndrome 3 (BRGDA3)
Swiss-Prot	VAR_045987	Polymorphism	p.GLN84ARG	N/A
Swiss-Prot	VAR_026742	Disease	p.GLY406ARG	Timothy syndrome (TS)
Swiss-Prot	VAR_044040	Disease	p.GLY490ARG	Brugada syndrome 3 (BRGDA3)
Swiss-Prot	VAR_026741	Disease	p.GLY402SER	Timothy syndrome (TS)
Swiss-Prot	VAR_045988	Polymorphism	p.ILE391LEU	N/A
Swiss-Prot	VAR_061102	Polymorphism	p.LYS1893ARG	N/A
dbSNP	rs10774053	Polymorphism	p.MET1869VAL	N/A
dbSNP	rs10848683	Polymorphism	p.PRO1868LEU	N/A
Swiss-Prot	VAR_064700	Polymorphism	p.SER878ARG	N/A
OMIM	114205.0004	Disease	p.ALA39VAL	BRUGADA SYNDROME 3
OMIM	114205.0001	Disease	p.GLY406ARG	TIMOTHY SYNDROME
OMIM	114205.0003	Disease	p.GLY490ARG	BRUGADA SYNDROME 3
OMIM	114205.0002	Disease	p.GLY402SER	TIMOTHY SYNDROME

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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