Results for the protein: P11532

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CH	cd00014	2.2e-33	135	240
SPEC	cd00176	1.6e-36	340	558
SPEC	cd00176	2.8e-22	720	936
SPEC	cd00176	2e-27	1049	1265
SPEC	cd00176	4.4e-09	1267	1476
SPEC	cd00176	3e-08	1478	1678
SPEC	cd00176	9.9e-36	2105	2320
SPEC	cd00176	1.6e-29	2471	2688
SPEC	cd00176	7.2e-37	2690	2933
SPEC	cd00176	1.4e-21	2935	3186
WW	cd00201	5.6e-12	3058	3088
ZZ	cd02249	1.5e-06	3311	3359
ZZ_dystrophin	cd02334	3.8e-30	3311	3359
SAC6	COG5069	1.8e-06	8	556
CH	pfam00307	1.5e-26	16	119
CH	pfam00307	3.1e-28	135	240
Spectrin	pfam00435	8.7e-21	339	447
Spectrin	pfam00435	1.7e-18	448	556
Spectrin	pfam00435	1.2e-08	830	934
Spectrin	pfam00435	2.7e-23	1048	1154
Spectrin	pfam00435	4.9e-15	1157	1263
Spectrin	pfam00435	1.7e-12	1571	1676
Spectrin	pfam00435	1.5e-14	1679	1779
Spectrin	pfam00435	4e-11	1877	1979
Spectrin	pfam00435	1e-20	2104	2208
Spectrin	pfam00435	6.2e-16	2211	2318
Spectrin	pfam00435	0.00044	2470	2577
Spectrin	pfam00435	9e-14	2580	2686
Spectrin	pfam00435	3.8e-05	2689	2802
Spectrin	pfam00435	2.6e-20	2934	3040
WW	pfam00397	2e-11	3057	3086
ZZ	pfam00569	1.8e-24	3307	3352
CH	smart00033	5.1e-28	17	117
CH	smart00033	1.3e-25	136	235
SPEC	smart00150	4.6e-18	342	446
SPEC	smart00150	3.1e-15	451	555
SPEC	smart00150	9.8e-10	722	827
SPEC	smart00150	5.9e-13	1051	1153
SPEC	smart00150	6.1e-10	1160	1262
SPEC	smart00150	1.9e-08	1269	1366
SPEC	smart00150	2.1e-08	1468	1567
SPEC	smart00150	8.1e-19	2107	2207
SPEC	smart00150	2.7e-11	2214	2317
SPEC	smart00150	3.3e-17	2473	2576
SPEC	smart00150	1.1e-07	2583	2685
SPEC	smart00150	1.6e-18	2692	2801
SPEC	smart00150	7.1e-11	2808	2930
SPEC	smart00150	1.1e-15	2937	3039
WW	smart00456	1.1e-11	3057	3088
efhand_1	pfam09068	7.4e-74	3087	3207
efhand_2	pfam09069	2.6e-64	3211	3302
ZnF_ZZ	smart00291	2.9e-17	3307	3351

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_005149	Disease	p.ALA168ASP	Becker muscular dystrophy (BMD)
Swiss-Prot	VAR_005155	Polymorphism	p.ALA784GLY	N/A
Swiss-Prot	VAR_005159	Polymorphism	p.ALA1278PRO	N/A
Swiss-Prot	VAR_023539	Disease	p.ALA171PRO	Becker muscular dystrophy (BMD)
Swiss-Prot	VAR_036356	Polymorphism	p.ALA2164VAL	N/A
Swiss-Prot	VAR_005172	Disease	p.ALA3421VAL	Becker muscular dystrophy (BMD)
Swiss-Prot	VAR_057643	Polymorphism	p.ALA573VAL	N/A
Swiss-Prot	VAR_057647	Polymorphism	p.ARG2108CYS	N/A
Swiss-Prot	VAR_036355	Polymorphism	p.ARG1470HIS	N/A
Swiss-Prot	VAR_005162	Polymorphism	p.ARG1745HIS	N/A
Swiss-Prot	VAR_005163	Polymorphism	p.ARG1844SER	N/A
Swiss-Prot	VAR_005164	Polymorphism	p.ARG2155TRP	N/A
Swiss-Prot	VAR_005165	Polymorphism	p.ARG2191TRP	N/A
Swiss-Prot	VAR_005169	Polymorphism	p.ASN2912ASP	N/A
Swiss-Prot	VAR_023542	Disease	p.ASN1672LYS	Cardiomyopathy, dilated, X-linked 3B (CMD3B)
Swiss-Prot	VAR_023543	Polymorphism	p.ASN2299THR	N/A
Swiss-Prot	VAR_023541	Disease	p.ASP645GLY	Duchenne muscular dystrophy (DMD)
Swiss-Prot	VAR_005156	Polymorphism	p.ASP882GLY	N/A
Swiss-Prot	VAR_023546	Disease	p.ASP3335HIS	Duchenne muscular dystrophy (DMD)
Swiss-Prot	VAR_023538	Polymorphism	p.ASP165VAL	N/A
Swiss-Prot	VAR_023545	Polymorphism	p.CYS3313PHE	N/A
Swiss-Prot	VAR_023547	Disease	p.CYS3340TYR	Duchenne muscular dystrophy (DMD)
Swiss-Prot	VAR_005171	Polymorphism	p.GLN2937ARG	N/A
Swiss-Prot	VAR_005151	Polymorphism	p.GLN365HIS	N/A
Swiss-Prot	VAR_005161	Polymorphism	p.GLN1469LEU	N/A
Swiss-Prot	VAR_005148	Polymorphism	p.GLN133PRO	N/A
Swiss-Prot	VAR_036354	Polymorphism	p.GLU1219GLN	N/A
Swiss-Prot	VAR_005168	Polymorphism	p.GLU2910VAL	N/A
Swiss-Prot	VAR_005170	Disease	p.HIS2921ARG	Becker muscular dystrophy (BMD)
Swiss-Prot	VAR_005147	Disease	p.LEU54ARG	Duchenne muscular dystrophy (DMD)
Swiss-Prot	VAR_005153	Polymorphism	p.LEU623ILE	N/A
Swiss-Prot	VAR_036353	Polymorphism	p.LEU334PHE	N/A
Swiss-Prot	VAR_005160	Polymorphism	p.LYS1377ASN	N/A
Swiss-Prot	VAR_023537	Disease	p.LYS18ASN	Cardiomyopathy, dilated, X-linked 3B (CMD3B)
Swiss-Prot	VAR_005167	Polymorphism	p.LYS2366GLN	N/A
Swiss-Prot	VAR_005154	Disease	p.LYS773GLU	Duchenne muscular dystrophy (DMD)
Swiss-Prot	VAR_023544	Disease	p.PHE3228LEU	Cardiomyopathy, dilated, X-linked 3B (CMD3B)
Swiss-Prot	VAR_057646	Polymorphism	p.PHE1388VAL	N/A
Swiss-Prot	VAR_062110	Polymorphism	p.SER666LEU	N/A
Swiss-Prot	VAR_023540	Disease	p.THR279ALA	Cardiomyopathy, dilated, X-linked 3B (CMD3B)
Swiss-Prot	VAR_005158	Polymorphism	p.THR1245ILE	N/A
Swiss-Prot	VAR_057645	Polymorphism	p.THR1136SER	N/A
Swiss-Prot	VAR_057642	Polymorphism	p.THR409SER	N/A
Swiss-Prot	VAR_057644	Polymorphism	p.THR715SER	N/A
Swiss-Prot	VAR_065764	Polymorphism	p.TRP118ARG	N/A
Swiss-Prot	VAR_005150	Disease	p.TYR231ASN	Becker muscular dystrophy (BMD)
Swiss-Prot	VAR_005157	Polymorphism	p.VAL1197PHE	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