Results for the protein: NP

Results for the Protein: NP_001185465

309384276

4210

MEFV

NCBI

pyrin isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  FAMILIAL MEDITERRANEAN FEVER
  FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

15

4

15

4

0

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: PYRIN - pfam02758 Pyrin_ASC-like - cd08321 Pyrin_NALPs - cd08320 Pyrin - cd08305 zf-B_box - pfam00643 BBOX - smart00336 BBOX - cd00021	RefSeq Protein: NP_001185465 Default View:

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	162	201
PYRIN	pfam02758	2.2e-36	5	88
zf-B_box	pfam00643	6.5e-08	159	201
BBOX	smart00336	3.7e-12	159	201

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs11466024	Polymorphism	p.ARG197GLN	N/A
dbSNP	rs1231123	Polymorphism	p.ASP424GLU	N/A
dbSNP	rs1231122	Polymorphism	p.GLY436ARG	N/A
dbSNP	rs11466044	Polymorphism	p.GLY402GLU	N/A
OMIM	608107.0011	Disease	p.ALA591SER	FAMILIAL MEDITERRANEAN FEVER
OMIM	608107.0015	Disease	p.ARG197GLN	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	608107.0016	Disease	p.ARG500HIS	FAMILIAL MEDITERRANEAN FEVER
OMIM	608107.0012	Disease	p.ARG608HIS	FAMILIAL MEDITERRANEAN FEVER
OMIM	608107.0006	Disease	p.GLU1ASP	FAMILIAL MEDITERRANEAN FEVER
OMIM	608107.0005 608107.0018	Disease	p.GLU1GLN	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
OMIM	608107.0017	Disease	p.GLU1VAL	FAMILIAL MEDITERRANEAN FEVER
OMIM	608107.0020	Disease	p.HIS267TYR	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
OMIM	608107.0010	Disease	p.LYS542ARG	FAMILIAL MEDITERRANEAN FEVER
OMIM	608107.0002 608107.0018	Disease	p.MET541ILE	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
OMIM	608107.0001	Disease	p.MET541VAL	FAMILIAL MEDITERRANEAN FEVER
OMIM	608107.0008	Disease	p.PHE268LEU	FAMILIAL MEDITERRANEAN FEVER
OMIM	608107.0014	Disease	p.PRO158SER	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	608107.0007	Disease	p.THR1ILE	FAMILIAL MEDITERRANEAN FEVER
OMIM	608107.0003	Disease	p.VAL573ALA	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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