Results for the protein: P21817

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
RYDR_ITPR	pfam01365	1.8e-93	439	643
SPRY	pfam00622	1.9e-37	658	795
RyR	pfam02026	3.4e-55	849	943
RyR	pfam02026	7.3e-48	963	1057
SPRY	pfam00622	1.5e-45	1084	1206
SPRY	pfam00622	3.8e-39	1429	1568
RYDR_ITPR	pfam01365	8.5e-89	2157	2365
RyR	pfam02026	1.1e-49	2734	2828
RyR	pfam02026	4e-46	2854	2942
Ion_trans	pfam00520	8.3e-06	4765	4937
Ins145_P3_rec	pfam08709	5.9e-101	8	206
MIR	smart00472	0.00037	97	152
MIR	smart00472	0.00028	159	204
MIR	smart00472	2.9e-08	210	264
MIR	smart00472	3e-30	270	360
SPRY	smart00449	1.2e-28	658	795
SPRY	smart00449	3.9e-40	1084	1206
SPRY	smart00449	7.5e-39	1429	1568
RIH_assoc	pfam08454	1.7e-68	3870	4003
RR_TM4-6	pfam06459	5.7e-133	4382	4671

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_058566	Disease	p.ALA1352GLY	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045724	Disease	p.ALA2421PRO	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045721	Disease	p.ALA2350THR	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045723	Disease	p.ALA2367THR	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045725	Disease	p.ALA2428THR	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_051890	Polymorphism	p.ALA291THR	N/A
Swiss-Prot	VAR_045780	Disease	p.ALA4940THR	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045727	Disease	p.ALA2437VAL	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045731	Polymorphism	p.ALA3118VAL	N/A
Swiss-Prot	VAR_045759	Disease	p.ALA4846VAL	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045774	Disease	p.ALA4906VAL	Central core disease of muscle (CCD)
Swiss-Prot	VAR_058565	Disease	p.ARG1043CYS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_005590	Disease	p.ARG163CYS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045700	Disease	p.ARG177CYS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_005601	Disease	p.ARG2163CYS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045722	Disease	p.ARG2355CYS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_008975	Disease	p.ARG2454CYS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_008977	Disease	p.ARG2458CYS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045705	Disease	p.ARG401CYS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045695	Disease	p.ARG44CYS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_005594	Polymorphism	p.ARG471CYS	N/A
Swiss-Prot	VAR_045755	Disease	p.ARG4825CYS	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045762	Disease	p.ARG4861CYS	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045708	Disease	p.ARG533CYS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_005597	Disease	p.ARG614CYS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045734	Disease	p.ARG3772GLN	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045739	Disease	p.ARG4558GLN	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045749	Disease	p.ARG4737GLN	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045768	Disease	p.ARG4893GLN	Central core disease of muscle (CCD)
Swiss-Prot	VAR_068516	Disease	p.ARG2508GLY	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045775	Disease	p.ARG4914GLY	Central core disease of muscle (CCD)
Swiss-Prot	VAR_068514	Polymorphism	p.ARG1679HIS	N/A
Swiss-Prot	VAR_005602	Disease	p.ARG2163HIS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_058568	Disease	p.ARG2336HIS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_005606	Disease	p.ARG2435HIS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_008976	Disease	p.ARG2454HIS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_008978	Disease	p.ARG2458HIS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_068517	Disease	p.ARG3366HIS	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045733	Disease	p.ARG3539HIS	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045706	Disease	p.ARG401HIS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045763	Disease	p.ARG4861HIS	Central core disease of muscle (CCD)
Swiss-Prot	VAR_058563	Disease	p.ARG530HIS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_008971	Disease	p.ARG533HIS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045697	Disease	p.ARG163LEU	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_008974	Disease	p.ARG2435LEU	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_058562	Disease	p.ARG367LEU	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_005598	Disease	p.ARG614LEU	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_032912	Polymorphism	p.ARG1109LYS	N/A
Swiss-Prot	VAR_008972	Disease	p.ARG2163PRO	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045707	Disease	p.ARG401SER	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045736	Disease	p.ARG4136SER	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045776	Disease	p.ARG4914THR	Central core disease of muscle (CCD)
Swiss-Prot	VAR_032910	Disease	p.ARG109TRP	Multiminicore disease with external ophthalmoplegia (MMDO)
Swiss-Prot	VAR_045728	Disease	p.ARG2452TRP	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045729	Disease	p.ARG2676TRP	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045704	Disease	p.ARG328TRP	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_058576	Disease	p.ARG3772TRP	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045750	Disease	p.ARG4737TRP	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045769	Disease	p.ARG4893TRP	Central core disease of muscle (CCD)
Swiss-Prot	VAR_005596	Disease	p.ARG552TRP	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_063848	Disease	p.ASN3326LYS	Myopathy, congenital, with fiber-type disproportion (CFTD)
Swiss-Prot	VAR_045716	Disease	p.ASN2342SER	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045699	Disease	p.ASP166ASN	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045726	Disease	p.ASP2431ASN	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045713	Disease	p.ASP2129GLU	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045779	Disease	p.ASP4939GLU	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_058571	Disease	p.ASP2730GLY	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_058564	Disease	p.ASP544TYR	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045703	Disease	p.ASP227VAL	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_005589	Disease	p.CYS35ARG	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_063849	Disease	p.CYS3402GLY	Myopathy, congenital, with fiber-type disproportion (CFTD)
Swiss-Prot	VAR_032916	Polymorphism	p.GLN3756GLU	N/A
Swiss-Prot	VAR_045717	Polymorphism	p.GLU2344ASP	N/A
Swiss-Prot	VAR_058575	Polymorphism	p.GLU3583GLN	N/A
Swiss-Prot	VAR_045696	Disease	p.GLU160GLY	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045720	Disease	p.GLU2348GLY	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_068511	Disease	p.GLU1058LYS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_058569	Disease	p.GLU2404LYS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_051892	Polymorphism	p.GLU2779LYS	N/A
Swiss-Prot	VAR_058572	Disease	p.GLU2880LYS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_058574	Disease	p.GLU3290LYS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045710	Polymorphism	p.GLY1832ALA	N/A
Swiss-Prot	VAR_045698	Disease	p.GLY165ARG	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_005605	Disease	p.GLY2434ARG	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_005591	Polymorphism	p.GLY248ARG	N/A
Swiss-Prot	VAR_005592	Disease	p.GLY341ARG	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_058577	Disease	p.GLY3806ARG	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045767	Disease	p.GLY4891ARG	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045773	Disease	p.GLY4899ARG	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045742	Disease	p.GLY4638ASP	Central core disease of muscle (CCD)
Swiss-Prot	VAR_068520	Disease	p.GLY4743ASP	Central core disease of muscle (CCD)
Swiss-Prot	VAR_005600	Polymorphism	p.GLY2060CYS	N/A
Swiss-Prot	VAR_045702	Disease	p.GLY215GLU	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045772	Disease	p.GLY4899GLU	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045709	Disease	p.GLY1704SER	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045770	Disease	p.GLY4897VAL	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045781	Disease	p.GLY4942VAL	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_068510	Disease	p.HIS382ASN	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_068515	Disease	p.HIS2204GLN	Central core disease of muscle (CCD)
Swiss-Prot	VAR_063847	Disease	p.HIS2035LEU	Myopathy, congenital, with fiber-type disproportion (CFTD)
Swiss-Prot	VAR_045745	Disease	p.HIS4651PRO	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045735	Disease	p.ILE3916MET	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_005593	Disease	p.ILE403MET	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045778	Disease	p.ILE4938MET	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045771	Disease	p.ILE4898THR	Central core disease of muscle (CCD)
Swiss-Prot	VAR_058579	Disease	p.ILE4938THR	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_058567	Polymorphism	p.ILE2321VAL	N/A
Swiss-Prot	VAR_058560	Disease	p.LEU13ARG	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045753	Disease	p.LEU4814PHE	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045744	Disease	p.LEU4650PRO	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045751	Disease	p.LEU4793PRO	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045754	Disease	p.LEU4824PRO	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045694	Disease	p.LEU13VAL	Central core disease of muscle (CCD)
Swiss-Prot	VAR_058570	Polymorphism	p.LEU2550VAL	N/A
Swiss-Prot	VAR_045757	Disease	p.LEU4838VAL	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_068513	Polymorphism	p.LYS1393ARG	N/A
Swiss-Prot	VAR_045766	Disease	p.LYS4876ARG	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045748	Disease	p.LYS4724GLN	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045711	Polymorphism	p.MET2101LYS	N/A
Swiss-Prot	VAR_058561	Disease	p.MET226LYS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_032915	Disease	p.MET2423LYS	Multiminicore disease with external ophthalmoplegia (MMDO)
Swiss-Prot	VAR_063846	Disease	p.MET402THR	Myopathy, congenital, with fiber-type disproportion (CFTD)
Swiss-Prot	VAR_032911	Polymorphism	p.MET485VAL	N/A
Swiss-Prot	VAR_045747	Disease	p.PHE4684SER	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_068519	Polymorphism	p.PRO4493ALA	N/A
Swiss-Prot	VAR_005599	Polymorphism	p.PRO1787LEU	N/A
Swiss-Prot	VAR_058578	Disease	p.PRO4501LEU	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045782	Disease	p.PRO4973LEU	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045732	Disease	p.PRO3527SER	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045746	Polymorphism	p.PRO4668SER	N/A
Swiss-Prot	VAR_032914	Polymorphism	p.SER1489ASN	N/A
Swiss-Prot	VAR_032913	Polymorphism	p.SER1342GLY	N/A
Swiss-Prot	VAR_058573	Disease	p.SER3217PRO	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045740	Disease	p.THR4637ALA	Central core disease of muscle (CCD)
Swiss-Prot	VAR_008973	Disease	p.THR2206ARG	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045741	Polymorphism	p.THR4637ILE	N/A
Swiss-Prot	VAR_045756	Disease	p.THR4826ILE	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_005604	Disease	p.THR2206MET	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_068521	Disease	p.THR4882MET	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045730	Disease	p.THR2787SER	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_068512	Polymorphism	p.TYR1088CYS	N/A
Swiss-Prot	VAR_045701	Disease	p.TYR178CYS	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_068518	Disease	p.TYR3933CYS	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045752	Disease	p.TYR4796CYS	Central core disease of muscle (CCD)
Swiss-Prot	VAR_045765	Disease	p.TYR4864CYS	Central core disease of muscle (CCD)
Swiss-Prot	VAR_005595	Disease	p.TYR522SER	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045714	Disease	p.VAL2214ILE	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045715	Disease	p.VAL2280ILE	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_051891	Polymorphism	p.VAL2509ILE	N/A
Swiss-Prot	VAR_045760	Disease	p.VAL4849ILE	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045712	Disease	p.VAL2117LEU	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045738	Disease	p.VAL4234LEU	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_005603	Disease	p.VAL2168MET	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045718	Disease	p.VAL2346MET	Malignant hyperthermia 1 (MHS1)
Swiss-Prot	VAR_045758	Disease	p.VAL4842MET	Central core disease of muscle (CCD)
OMIM	180901.0004	Disease	p.ARG163CYS	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1\|\|CENTRAL CORE DISEASE, INCLUDED
OMIM	180901.0010	Disease	p.ARG2163CYS	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
OMIM	180901.0008	Disease	p.ARG2458CYS	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
OMIM	180901.0001	Disease	p.ARG614CYS	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
OMIM	180901.0002	Disease	p.ARG248GLY	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
OMIM	180901.0011	Disease	p.ARG2163HIS	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1\|\|CENTRAL CORE DISEASE, INCLUDED
OMIM	180901.0003	Disease	p.ARG2435HIS	CENTRAL CORE DISEASE
OMIM	180901.0009	Disease	p.ARG2458HIS	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
OMIM	180901.0019	Disease	p.ARG4861HIS	CENTRAL CORE DISEASE\|\|NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED
OMIM	180901.0026	Disease	p.ARG109TRP	MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
OMIM	180901.0023	Disease	p.ARG2676TRP	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
OMIM	180901.0007	Disease	p.GLY2434ARG	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
OMIM	180901.0006	Disease	p.GLY341ARG	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
OMIM	180901.0005	Disease	p.ILE403MET	CENTRAL CORE DISEASE
OMIM	180901.0012	Disease	p.ILE4898THR	CENTRAL CORE DISEASE\|\|MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1, INCLUDED
OMIM	180901.0038	Disease	p.LYS33GLU	KING-DENBOROUGH SYNDROME
OMIM	180901.0027	Disease	p.MET2423LYS	MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
OMIM	180901.0021	Disease	p.PRO3527SER	CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE
OMIM	180901.0029	Disease	p.SER3450PHE	MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
OMIM	180901.0030	Disease	p.THR4637ALA	CENTRAL CORE DISEASE
OMIM	180901.0015	Disease	p.THR4826ILE	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
OMIM	180901.0014	Disease	p.THR2206MET	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
OMIM	180901.0023	Disease	p.THR2787SER	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
OMIM	180901.0016	Disease	p.TYR4796CYS	CENTRAL CORE DISEASE\|\|MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1, INCLUDED
OMIM	180901.0031	Disease	p.TYR522SER	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1\|\|CENTRAL CORE DISEASE, INCLUDED
OMIM	180901.0022	Disease	p.VAL4849ILE	CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE\|\|MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, INCLUDED
OMIM	180901.0013	Disease	p.VAL2168MET	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1

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