Results for the protein: Q15413

Results for the Protein: Q15413

325511382

6263

RYR3

NCBI, UniProt

RYR3_HUMAN RecName: Full=Ryanodine receptor 3; Short=RYR-3; Short=RyR3; AltName: Full=Brain ryanodine receptor-calcium release channel; AltName: Full=Brain-type ryanodine receptor; AltName: Full=Type 3 ryanodine receptor

			0 10 0 7 3

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: Ins145_P3_rec - pfam08709 MIR - smart00472 MIR - pfam02815 RYDR_ITPR - pfam01365 SPRY - pfam00622 SPRY - smart00449 RyR - pfam02026 RIH_assoc - pfam08454 EFh - cd00051 efhand - pfam00036 RR_TM4-6 - pfam06459 Ion_trans - pfam00520	Swiss-Prot Protein: Q15413 Identical to: NP_001027 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
MIR	pfam02815	1.9e-75	216	398
RYDR_ITPR	pfam01365	8.4e-93	438	642
SPRY	pfam00622	1.1e-36	657	794
RyR	pfam02026	1e-55	848	942
RyR	pfam02026	1.7e-51	962	1056
SPRY	pfam00622	1.3e-40	1084	1206
SPRY	pfam00622	9.4e-39	1325	1464
RYDR_ITPR	pfam01365	1.5e-76	2019	2229
RyR	pfam02026	1.5e-54	2597	2691
RyR	pfam02026	5.6e-42	2715	2803
efhand	pfam00036	0.00023	3923	3951
Ion_trans	pfam00520	1e-07	4593	4769
Ins145_P3_rec	pfam08709	4e-102	10	209
MIR	smart00472	7.6e-05	100	155
MIR	smart00472	0.00018	215	269
MIR	smart00472	4.5e-29	275	368
SPRY	smart00449	1.4e-27	657	794
SPRY	smart00449	9.3e-35	1084	1206
SPRY	smart00449	2.9e-29	1325	1464
RIH_assoc	pfam08454	1.6e-68	3722	3855
RR_TM4-6	pfam06459	7.8e-153	4234	4504

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs4780144	Polymorphism	p.ARG1641CYS	N/A
Swiss-Prot	VAR_024077	Polymorphism	p.ARG261SER	N/A
dbSNP	rs59021219	Polymorphism	p.ASP1678GLY	N/A
Swiss-Prot	VAR_011406	Polymorphism	p.GLU1380GLY	N/A
dbSNP	rs6495228	Polymorphism	p.GLY2270GLU	N/A
dbSNP	rs2304380	Polymorphism	p.ILE358THR	N/A
dbSNP	rs2229116	Polymorphism	p.ILE731VAL	N/A
Swiss-Prot	VAR_011404	Polymorphism	p.TYR693CYS	N/A
dbSNP	rs2077268	Polymorphism	p.VAL494ILE	N/A
dbSNP	rs114825824	Polymorphism	p.VAL610ILE	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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258