Results for the protein: Q01484

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ANK	cd00204	2.5e-38	25	150
ANK	cd00204	6.1e-29	155	286
Arp	COG0666	5.2e-22	171	372
ANK	cd00204	1.7e-46	293	418
Arp	COG0666	1.1e-22	375	570
ANK	cd00204	6.4e-45	425	550
ANK	cd00204	1e-45	557	682
Arp	COG0666	1.7e-30	593	878
ANK	cd00204	4.3e-39	687	814
Death_TRAILR_DR4_DR5	cd08315	0.00048	3564	3661
Death_p75NR	cd08311	4.2e-07	3565	3650
Death_ank	cd08317	2.2e-47	3567	3650
Death_ank3	cd08803	1.4e-39	3567	3650
Death_ank1	cd08805	2.1e-31	3567	3650
Death_ank2	cd08804	1.2e-65	3567	3650
Death_FADD	cd08306	5e-05	3569	3654
Death_RAIDD	cd08319	1.5e-05	3569	3650
Death_NMPP84	cd08318	0.0006	3570	3650
Death	cd01670	7.1e-17	3572	3650
Ank	pfam00023	4.8e-07	63	95
Ank	pfam00023	8e-10	96	128
Ank	pfam00023	9.8e-09	129	161
Ank	pfam00023	1.6e-08	232	264
Ank	pfam00023	4.4e-11	265	297
Ank	pfam00023	2.4e-11	298	330
Ank	pfam00023	3.6e-07	331	363
Ank	pfam00023	9e-08	364	396
Ank	pfam00023	9.3e-10	397	429
Ank	pfam00023	3.7e-09	430	462
Ank	pfam00023	1.1e-08	463	495
Ank	pfam00023	3.7e-08	496	528
Ank	pfam00023	1.2e-06	529	561
Ank	pfam00023	1.2e-07	562	594
Ank	pfam00023	3.2e-08	595	627
Ank	pfam00023	1.1e-09	628	660
Ank	pfam00023	2.1e-10	661	693
Ank	pfam00023	1.3e-05	694	726
Ank	pfam00023	5.3e-10	727	759
Ank	pfam00023	1.5e-10	760	792
ZU5	pfam00791	5.1e-73	966	1103
Death	pfam00531	5.6e-24	3570	3653
ANK	smart00248	1.2e-05	63	92
ANK	smart00248	6e-08	96	125
ANK	smart00248	3.6e-08	129	158
ANK	smart00248	1.5e-06	232	261
ANK	smart00248	5.9e-08	265	294
ANK	smart00248	2.9e-07	298	327
ANK	smart00248	1.3e-07	331	360
ANK	smart00248	1.8e-06	364	393
ANK	smart00248	8.3e-08	397	426
ANK	smart00248	1.4e-06	430	459
ANK	smart00248	3.9e-07	463	492
ANK	smart00248	0.00014	496	525
ANK	smart00248	8.5e-05	529	558
ANK	smart00248	3e-06	562	591
ANK	smart00248	7.1e-06	595	624
ANK	smart00248	5.2e-07	628	657
ANK	smart00248	4.3e-08	661	690
ANK	smart00248	0.00035	694	723
ANK	smart00248	2.5e-07	727	756
ANK	smart00248	4.3e-08	760	789
ZU5	smart00218	1e-49	966	1103
DEATH	smart00005	2e-28	3566	3652

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs61734477	Polymorphism	p.ALA2336VAL	N/A
Swiss-Prot	VAR_022937	Disease	p.ARG3906TRP	Long QT syndrome 4 (LQT4)
dbSNP	rs29372	Polymorphism	p.ASN687SER	N/A
Swiss-Prot	VAR_022934	Disease	p.GLU1458GLY	Long QT syndrome 4 (LQT4)
Swiss-Prot	VAR_022938	Disease	p.GLU3931LYS	Long QT syndrome 4 (LQT4)
Swiss-Prot	VAR_035607	Polymorphism	p.GLY1267ARG	N/A
Swiss-Prot	VAR_035606	Polymorphism	p.GLY685GLU	N/A
dbSNP	rs61734478	Polymorphism	p.GLY2212SER	N/A
Swiss-Prot	VAR_022935	Disease	p.LEU3740ILE	Long QT syndrome 4 (LQT4)
dbSNP	rs3733617	Polymorphism	p.PRO2835SER	N/A
dbSNP	rs34270799	Polymorphism	p.SER3300ARG	N/A
Swiss-Prot	VAR_022936	Disease	p.THR3744ASN	Long QT syndrome 4 (LQT4)
Swiss-Prot	VAR_035608	Polymorphism	p.THR3653LYS	N/A
Swiss-Prot	VAR_055505	Polymorphism	p.VAL2369ALA	N/A
OMIM	106410.0004	Disease	p.ARG1788TRP	LONG QT SYNDROME 4
OMIM	106410.0001	Disease	p.GLU1425GLY	LONG QT SYNDROME 4\|\|CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, INCLUDED
OMIM	106410.0005	Disease	p.GLU1813LYS	CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
OMIM	106410.0003	Disease	p.LEU1622ILE	CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
OMIM	106410.0002	Disease	p.THR1626ASN	CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED

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