Results for the protein: Q9UF02

Results for the Protein: Q9UF02

20532390

27091

CACNG5

NCBI, UniProt

CCG5_HUMAN RecName: Full=Voltage-dependent calcium channel gamma-5 subunit; AltName: Full=Neuronal voltage-gated calcium channel gamma-5 subunit; AltName: Full=Transmembrane AMPAR regulatory protein gamma-5; Short=TARP gamma-5

			0 11 0 11 0

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Default View: PMP22_Claudin - pfam00822 SUR7 - pfam06687	Swiss-Prot Protein: Q9UF02 Identical to: NP_665810 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
SUR7	pfam06687	0.00049	9	188

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs149774604	Polymorphism	p.ALA206VAL	N/A
dbSNP	rs145536558	Polymorphism	p.ARG218HIS	N/A
dbSNP	rs138881080	Polymorphism	p.ARG98HIS	N/A
dbSNP	rs141219015	Polymorphism	p.ARG60TRP	N/A
dbSNP	rs146501310	Polymorphism	p.ASN92SER	N/A
dbSNP	rs145737408	Polymorphism	p.GLU207LYS	N/A
dbSNP	rs149430161	Polymorphism	p.GLY5ARG	N/A
dbSNP	rs41280112	Polymorphism	p.HIS233TYR	N/A
dbSNP	rs143315434	Polymorphism	p.ILE156PHE	N/A
dbSNP	rs149159754	Polymorphism	p.THR128LYS	N/A
dbSNP	rs150770823	Polymorphism	p.VAL61PHE	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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