Results for the protein: Q14573

Results for the Protein: Q14573

209572633

3710

ITPR3

NCBI, UniProt

ITPR3_HUMAN RecName: Full=Inositol 1,4,5-trisphosphate receptor type 3; AltName: Full=IP3 receptor isoform 3; Short=IP3R 3; Short=InsP3R3; AltName: Full=Type 3 inositol 1,4,5-trisphosphate receptor; Short=Type 3 InsP3 receptor

			0 10 0 3 7

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Default View: Ins145_P3_rec - pfam08709 MIR - smart00472 MIR - pfam02815 RYDR_ITPR - pfam01365 RIH_assoc - pfam08454 Ion_trans - pfam00520	Swiss-Prot Protein: Q14573 Identical to: NP_002215 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
RYDR_ITPR	pfam01365	9.2e-101	471	677
RYDR_ITPR	pfam01365	4.1e-76	1171	1345
Ion_trans	pfam00520	1.6e-17	2291	2516
Ins145_P3_rec	pfam08709	2.4e-148	3	226
MIR	smart00472	1.3e-05	113	167
MIR	smart00472	3e-07	232	288
MIR	smart00472	1.1e-42	295	402
RIH_assoc	pfam08454	4.1e-55	1860	1979

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_046982	Polymorphism	p.ARG1850GLN	N/A
Swiss-Prot	VAR_046978	Polymorphism	p.ARG667GLN	N/A
dbSNP	rs1803831	Polymorphism	p.ASN980LYS	N/A
Swiss-Prot	VAR_046979	Polymorphism	p.ASP742GLU	N/A
Swiss-Prot	VAR_046983	Polymorphism	p.GLU2398GLN	N/A
Swiss-Prot	VAR_046980	Polymorphism	p.GLY1029VAL	N/A
Swiss-Prot	VAR_049604	Polymorphism	p.LEU374TRP	N/A
Swiss-Prot	VAR_046981	Polymorphism	p.LEU1552VAL	N/A
dbSNP	rs2229642	Polymorphism	p.LEU2436VAL	N/A
dbSNP	rs61756699	Polymorphism	p.THR1463PRO	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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