Results for the protein: O15553

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Pyrin_NALPs	cd08320	1.5e-08	8	92
Pyrin	cd08305	1.9e-07	9	87
BBOX	cd00021	4.6e-10	373	412
PYRIN	pfam02758	2.2e-36	5	88
zf-B_box	pfam00643	6.5e-08	370	412
SPRY	pfam00622	1.4e-37	650	775
BBOX	smart00336	3.7e-12	370	412
PRY	smart00589	3.1e-22	597	648
SPRY	smart00449	5.4e-40	650	775

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_009066	Polymorphism	p.ALA744SER	N/A
dbSNP	rs224222	Polymorphism	p.ARG202GLN	N/A
Swiss-Prot	VAR_009056	Disease	p.ARG408GLN	Familial Mediterranean fever, autosomal recessive (ARFMF)
dbSNP	rs11466024	Polymorphism	p.ARG408GLN	N/A
Swiss-Prot	VAR_016828	Disease	p.ARG653HIS	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_009067	Disease	p.ARG761HIS	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_028326	Disease	p.ARG42TRP	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_028341	Disease	p.ASP661ASN	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_024376	Polymorphism	p.GLN440GLU	N/A
Swiss-Prot	VAR_028329	Disease	p.GLU163ALA	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_028340	Disease	p.GLU656ALA	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_009052	Disease	p.GLU167ASP	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_009051	Disease	p.GLU148GLN	Familial Mediterranean fever, autosomal recessive (ARFMF)
dbSNP	rs3743930	Polymorphism	p.GLU148GLN	N/A
Swiss-Prot	VAR_016826	Disease	p.GLU230LYS	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_028331	Disease	p.GLU319LYS	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_028332	Disease	p.GLU474LYS	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_028328	Disease	p.GLU148VAL	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_016825	Polymorphism	p.GLY138ALA	N/A
Swiss-Prot	VAR_028342	Disease	p.GLY678GLU	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_028335	Disease	p.GLY632SER	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_028333	Disease	p.HIS478TYR	Familial Mediterranean fever, autosomal dominant (ADFMF)
Swiss-Prot	VAR_028336	Disease	p.ILE640MET	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_028350	Disease	p.ILE720MET	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_028337	Disease	p.ILE641PHE	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_016827	Polymorphism	p.ILE591THR	N/A
Swiss-Prot	VAR_016824	Disease	p.LEU110PRO	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_028339	Disease	p.LEU649PRO	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_009064	Disease	p.LYS695ARG	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_028346	Disease	p.LYS695MET	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_028343	Disease	p.MET680ILE	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_009061	Disease	p.MET694ILE	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_016830	Disease	p.MET680LEU	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_028345	Disease	p.MET694LEU	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_009062	Disease	p.MET694VAL	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_009057	Disease	p.PHE479LEU	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_028334	Polymorphism	p.PHE585LEU	N/A
Swiss-Prot	VAR_028351	Disease	p.PHE743LEU	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_028338	Disease	p.PRO646LEU	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_009055	Disease	p.PRO369SER	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_028349	Disease	p.PRO705SER	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_028352	Disease	p.PRO758SER	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_028353	Disease	p.PRO780THR	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_028327	Disease	p.SER108ARG	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_016829	Disease	p.SER675ASN	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_028347	Polymorphism	p.SER702CYS	N/A
Swiss-Prot	VAR_028330	Disease	p.THR177ILE	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_009054	Disease	p.THR267ILE	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_009059	Disease	p.THR681ILE	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_028344	Disease	p.TYR688CYS	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_009065	Disease	p.VAL726ALA	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_028348	Disease	p.VAL704ILE	Familial Mediterranean fever, autosomal recessive (ARFMF)
Swiss-Prot	VAR_048398	Polymorphism	p.VAL33LEU	N/A
OMIM	608107.0011	Disease	p.ALA744SER	FAMILIAL MEDITERRANEAN FEVER
OMIM	608107.0015	Disease	p.ARG408GLN	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	608107.0016	Disease	p.ARG653HIS	FAMILIAL MEDITERRANEAN FEVER
OMIM	608107.0012	Disease	p.ARG761HIS	FAMILIAL MEDITERRANEAN FEVER
OMIM	608107.0006	Disease	p.GLU167ASP	FAMILIAL MEDITERRANEAN FEVER
OMIM	608107.0005 608107.0018	Disease	p.GLU148GLN	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
OMIM	608107.0017	Disease	p.GLU148VAL	FAMILIAL MEDITERRANEAN FEVER
OMIM	608107.0020	Disease	p.HIS478TYR	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
OMIM	608107.0010	Disease	p.LYS695ARG	FAMILIAL MEDITERRANEAN FEVER
OMIM	608107.0002 608107.0018	Disease	p.MET694ILE	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
OMIM	608107.0001	Disease	p.MET694VAL	FAMILIAL MEDITERRANEAN FEVER
OMIM	608107.0008	Disease	p.PHE479LEU	FAMILIAL MEDITERRANEAN FEVER
OMIM	608107.0014	Disease	p.PRO369SER	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	608107.0007	Disease	p.THR267ILE	FAMILIAL MEDITERRANEAN FEVER
OMIM	608107.0003	Disease	p.VAL726ALA	FAMILIAL MEDITERRANEAN FEVER

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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