Results for the protein: P25445

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Death_FAS_TNFRSF6	cd08316	9.2e-61	223	319
Death	cd01670	3e-05	232	312
Death_DRs	cd08784	9e-41	232	311
Death_TNFR1	cd08313	2.3e-05	235	311
Death_FADD	cd08306	0.00014	239	315
TNFR_c6	pfam00020	1.2e-14	85	127
TNFR_c6	pfam00020	8.8e-09	129	165
Death	pfam00531	4.6e-20	231	314
TNFR	smart00208	1.2e-12	85	127
TNFR	smart00208	2.1e-07	129	165
DEATH	smart00005	7.1e-22	225	313

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_013428	Disease	p.ALA257ASP	Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
dbSNP	rs3218619	Polymorphism	p.ALA16THR	N/A
Swiss-Prot	VAR_013416	Polymorphism	p.ALA25THR	N/A
Swiss-Prot	VAR_013427	Disease	p.ARG250GLN	Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
Swiss-Prot	VAR_013426	Disease	p.ARG250PRO	Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
Swiss-Prot	VAR_013419	Disease	p.ARG121TRP	Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
Swiss-Prot	VAR_018323	Polymorphism	p.ASN255ASP	N/A
Swiss-Prot	VAR_013432	Polymorphism	p.ASN264LYS	N/A
Swiss-Prot	VAR_018321	Polymorphism	p.ASN118SER	N/A
Swiss-Prot	VAR_013429	Disease	p.ASP260GLY	Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
Swiss-Prot	VAR_013430	Disease	p.ASP260TYR	Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
Swiss-Prot	VAR_013431	Disease	p.ASP260VAL	Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
Swiss-Prot	VAR_018322	Polymorphism	p.CYS178ARG	N/A
Swiss-Prot	VAR_013418	Disease	p.CYS82ARG	Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
Swiss-Prot	VAR_013434	Disease	p.GLU272GLY	Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
Swiss-Prot	VAR_013435	Disease	p.GLU272LYS	Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
Swiss-Prot	VAR_065129	Disease	p.GLY253ASP	Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
Swiss-Prot	VAR_065130	Disease	p.GLY253SER	Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
Swiss-Prot	VAR_065131	Disease	p.ILE259ARG	Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
Swiss-Prot	VAR_058910	Disease	p.ILE262SER	Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
Swiss-Prot	VAR_013438	Disease	p.ILE310SER	Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
Swiss-Prot	VAR_052347	Polymorphism	p.ILE184VAL	N/A
Swiss-Prot	VAR_013420	Polymorphism	p.LEU180PHE	N/A
Swiss-Prot	VAR_013436	Polymorphism	p.LEU278PHE	N/A
Swiss-Prot	VAR_013437	Polymorphism	p.LYS299ASN	N/A
Swiss-Prot	VAR_013421	Polymorphism	p.PRO183LEU	N/A
Swiss-Prot	VAR_013417	Disease	p.THR28ALA	Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
Swiss-Prot	VAR_020009	Polymorphism	p.THR122ILE	N/A
Swiss-Prot	VAR_013422	Polymorphism	p.THR198ILE	N/A
Swiss-Prot	VAR_013433	Disease	p.THR270ILE	Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
Swiss-Prot	VAR_020942	Polymorphism	p.THR305ILE	N/A
Swiss-Prot	VAR_013424	Disease	p.THR241LYS	Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
Swiss-Prot	VAR_065132	Disease	p.THR270LYS	Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
Swiss-Prot	VAR_013425	Disease	p.THR241PRO	Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
Swiss-Prot	VAR_013423	Disease	p.TYR232CYS	Autoimmune lymphoproliferative syndrome 1A (ALPS1A)
Swiss-Prot	VAR_065128	Disease	p.VAL249LEU	Autoimmune lymphoproliferative syndrome 1A (ALPS1A)

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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