Results for the protein: Q00975

Results for the Protein: Q00975

1705854

774

CACNA1B

NCBI, UniProt

CAC1B_HUMAN RecName: Full=Voltage-dependent N-type calcium channel subunit alpha-1B; AltName: Full=Brain calcium channel III; Short=BIII; AltName: Full=Calcium channel, L type, alpha-1 polypeptide isoform 5; AltName: Full=Voltage-gated calcium channel subunit alpha Cav2.2

			0 5 0 1 4

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Default View: Ion_trans - pfam00520 Ca_chan_IQ - pfam08763	Swiss-Prot Protein: Q00975 Identical to: NP_000709 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ion_trans	pfam00520	1.1e-59	516	708
Ion_trans	pfam00520	3.1e-72	1185	1415
Ion_trans	pfam00520	2.3e-68	1505	1707
Ca_chan_IQ	pfam08763	2.6e-14	1847	1878

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs7873074	Polymorphism	p.ALA862SER	N/A
Swiss-Prot	VAR_048741	Polymorphism	p.ASN167LYS	N/A
Swiss-Prot	VAR_048742	Polymorphism	p.GLU1436LYS	N/A
Swiss-Prot	VAR_048743	Polymorphism	p.GLU1500LYS	N/A
Swiss-Prot	VAR_061101	Polymorphism	p.THR996ALA	N/A

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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