Results for the protein: P16157

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Arp	COG0666	1.1e-27	9	295
ANK	cd00204	2.5e-32	138	259
ANK	cd00204	3.9e-43	266	391
Arp	COG0666	3.2e-36	302	561
ANK	cd00204	7.7e-47	398	523
ANK	cd00204	2.1e-42	530	655
Arp	COG0666	9.9e-29	563	830
ANK	cd00204	3e-43	662	787
Death_NMPP84	cd08318	0.00025	1395	1484
Death_p75NR	cd08311	0.0002	1397	1484
Death_ank	cd08317	1.5e-43	1401	1484
Death_ank3	cd08803	2.6e-34	1401	1484
Death_ank2	cd08804	1.2e-31	1401	1484
Death_ank1	cd08805	1.7e-56	1401	1484
Death_RAIDD	cd08319	4e-05	1403	1483
Death_FADD	cd08306	2.1e-06	1405	1490
Death	cd01670	6.8e-23	1406	1484
Ank	pfam00023	6.5e-10	77	109
Ank	pfam00023	1.2e-09	110	142
Ank	pfam00023	2.5e-08	205	237
Ank	pfam00023	1.4e-09	238	270
Ank	pfam00023	4.8e-09	271	303
Ank	pfam00023	5.3e-06	304	336
Ank	pfam00023	1.7e-08	337	369
Ank	pfam00023	3.4e-11	370	402
Ank	pfam00023	6.5e-10	403	435
Ank	pfam00023	1.2e-07	436	468
Ank	pfam00023	5.8e-10	469	501
Ank	pfam00023	5.4e-05	502	534
Ank	pfam00023	7.7e-09	535	567
Ank	pfam00023	1.1e-07	568	600
Ank	pfam00023	5.9e-08	601	633
Ank	pfam00023	3.5e-08	634	666
Ank	pfam00023	4.2e-06	667	699
Ank	pfam00023	1.8e-11	700	732
Ank	pfam00023	2e-08	733	765
ZU5	pfam00791	4.1e-49	911	1015
Death	pfam00531	8.5e-24	1404	1487
ANK	smart00248	2.6e-08	77	106
ANK	smart00248	7.6e-09	110	139
ANK	smart00248	3.4e-07	205	234
ANK	smart00248	1.1e-06	238	267
ANK	smart00248	6.6e-06	271	300
ANK	smart00248	2.7e-07	304	333
ANK	smart00248	5.8e-07	337	366
ANK	smart00248	6e-09	370	399
ANK	smart00248	7e-07	403	432
ANK	smart00248	8e-07	436	465
ANK	smart00248	1.6e-08	469	498
ANK	smart00248	1.5e-05	502	531
ANK	smart00248	1.7e-06	535	564
ANK	smart00248	8.6e-08	568	597
ANK	smart00248	9.1e-07	601	630
ANK	smart00248	3.1e-05	634	663
ANK	smart00248	0.00028	667	696
ANK	smart00248	1.3e-08	700	729
ANK	smart00248	2.3e-06	733	762
ZU5	smart00218	1.3e-61	911	1015
DEATH	smart00005	2.3e-27	1400	1486

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_028770	Polymorphism	p.ALA1126PRO	N/A
Swiss-Prot	VAR_061012	Polymorphism	p.ARG832GLN	N/A
dbSNP	rs2304877	Polymorphism	p.ARG619HIS	N/A
Swiss-Prot	VAR_000595	Polymorphism	p.ARG21THR	N/A
Swiss-Prot	VAR_000602	Polymorphism	p.ASP1592ASN	N/A
Swiss-Prot	VAR_000599	Polymorphism	p.ASP845GLU	N/A
Swiss-Prot	VAR_035605	Polymorphism	p.ASP332HIS	N/A
Swiss-Prot	VAR_000601	Polymorphism	p.GLU1286ASP	N/A
Swiss-Prot	VAR_054992	Disease	p.ILE1054THR	Spherocytosis 1 (SPH1)
Swiss-Prot	VAR_054991	Disease	p.LEU276ARG	Spherocytosis 1 (SPH1)
Swiss-Prot	VAR_028769	Polymorphism	p.LEU733ILE	N/A
Swiss-Prot	VAR_028772	Polymorphism	p.MET1325VAL	N/A
Swiss-Prot	VAR_000600	Polymorphism	p.SER1392THR	N/A
Swiss-Prot	VAR_048263	Polymorphism	p.THR1075ILE	N/A
Swiss-Prot	VAR_028771	Polymorphism	p.THR1192PRO	N/A
Swiss-Prot	VAR_000598	Polymorphism	p.VAL750ALA	N/A
Swiss-Prot	VAR_028773	Polymorphism	p.VAL1546ILE	N/A
Swiss-Prot	VAR_000596	Disease	p.VAL463ILE	Spherocytosis 1 (SPH1)
Swiss-Prot	VAR_026411	Polymorphism	p.VAL991LEU	N/A
OMIM	612641.0004	Disease	p.ARG1792TER	SPHEROCYTOSIS, TYPE 1, DUE TO ANKYRIN SAINT-ETIENNE 2
OMIM	612641.0001	Disease	p.GLU1628TER	SPHEROCYTOSIS, TYPE 1, DUE TO ANKYRIN-RAKOVNIK
OMIM	612641.0003	Disease	p.TRP1680TER	SPHEROCYTOSIS, TYPE 1, DUE TO ANKYRIN SAINT-ETIENNE 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.

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