Results for the protein: O60840

Results for the Protein: O60840

226693506

778

CACNA1F

NCBI, UniProt

CAC1F_HUMAN RecName: Full=Voltage-dependent L-type calcium channel subunit alpha-1F; AltName: Full=Voltage-gated calcium channel subunit alpha Cav1.4

Known Diseases associated with this Protein:
  NIGHT BLINDNESS, CONGENITAL STATIONARY, 2A (CSNB2A)
  NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
  NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, SEVERE

23

5

4

4

20

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Default View: Ion_trans - pfam00520 Ca_chan_IQ - pfam08763	Swiss-Prot Protein: O60840 Identical to: NP_005174 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ion_trans	pfam00520	1.8e-59	563	757
Ion_trans	pfam00520	3.9e-73	906	1136
Ion_trans	pfam00520	2.2e-71	1224	1440
Ca_chan_IQ	pfam08763	7.6e-17	1576	1607

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_030817	Disease	p.ALA928ASP	Night blindness, congenital stationary, 2A (CSNB2A)
dbSNP	rs34308720	Polymorphism	p.ALA1259THR	N/A
Swiss-Prot	VAR_031822	Polymorphism	p.ALA1270THR	N/A
dbSNP	rs34162630	Disease	p.ARG519GLN	Night blindness, congenital stationary, 2A (CSNB2A)
dbSNP	rs33910054	Polymorphism	p.ARG1930HIS	N/A
Swiss-Prot	VAR_001506	Disease	p.ARG1060TRP	Night blindness, congenital stationary, 2A (CSNB2A)
Swiss-Prot	VAR_029376	Polymorphism	p.ASN746THR	N/A
Swiss-Prot	VAR_030820	Disease	p.CYS1499ARG	Night blindness, congenital stationary, 2A (CSNB2A)
Swiss-Prot	VAR_030808	Disease	p.CYS74ARG	Night blindness, congenital stationary, 2A (CSNB2A)
Swiss-Prot	VAR_030818	Disease	p.GLY1018ARG	Night blindness, congenital stationary, 2A (CSNB2A)
Swiss-Prot	VAR_030809	Disease	p.GLY150ARG	Night blindness, congenital stationary, 2A (CSNB2A)
Swiss-Prot	VAR_030811	Disease	p.GLY261ARG	Night blindness, congenital stationary, 2A (CSNB2A)
Swiss-Prot	VAR_001504	Disease	p.GLY369ASP	Night blindness, congenital stationary, 2A (CSNB2A)
Swiss-Prot	VAR_030813	Disease	p.GLY674ASP	Night blindness, congenital stationary, 2A (CSNB2A)
Swiss-Prot	VAR_030815	Disease	p.ILE756THR	Night blindness, congenital stationary, 2A (CSNB2A)
Swiss-Prot	VAR_001507	Disease	p.LEU1375HIS	Night blindness, congenital stationary, 2A (CSNB2A)
Swiss-Prot	VAR_030819	Disease	p.LEU1079PRO	Night blindness, congenital stationary, 2A (CSNB2A)
Swiss-Prot	VAR_030822	Disease	p.LEU1508PRO	Night blindness, congenital stationary, 2A (CSNB2A)
Swiss-Prot	VAR_030816	Disease	p.LEU860PRO	Night blindness, congenital stationary, 2A (CSNB2A)
Swiss-Prot	VAR_030814	Disease	p.PHE753CYS	Night blindness, congenital stationary, 2A (CSNB2A)
Swiss-Prot	VAR_030821	Disease	p.PRO1500ARG	Night blindness, congenital stationary, 2A (CSNB2A)
dbSNP	rs6520408	Polymorphism	p.PRO14LEU	N/A
Swiss-Prot	VAR_030810	Disease	p.SER229PRO	Night blindness, congenital stationary, 2A (CSNB2A)
Swiss-Prot	VAR_030812	Disease	p.VAL635ILE	Night blindness, congenital stationary, 2A (CSNB2A)
OMIM	300110.0004	Disease	p.ARG830TER	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
OMIM	300110.0002	Disease	p.ARG958TER	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
OMIM	300110.0001	Disease	p.GLY369ASP	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
OMIM	300110.0006	Disease	p.ILE745THR	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, SEVERE

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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