Results for the protein: P14222

Results for the Protein: P14222

129819

5551

PRF1

NCBI, UniProt

PERF_HUMAN RecName: Full=Perforin-1; Short=P1; AltName: Full=Cytolysin; AltName: Full=Lymphocyte pore-forming protein; Short=PFP; Flags: Precursor

Known Diseases associated with this Protein:
  APLASTIC ANEMIA
  FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS 2 (FHL2)
  HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
  HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, SUSCEPTIBILITY TO
  LYMPHOMA, NON-HODGKIN, INCLUDED
  LYMPHOMA, NON-HODGKIN, SUSCEPTIBILITY TO, INCLUDED;;

21

4

13

1

11

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: MACPF - pfam01823 MACPF - smart00457 C2_Perforin - cd04032 C2 - smart00239 C2B_MCTP_PRT - cd08376 C2 - pfam00168 C2 - cd00030	Swiss-Prot Protein: P14222 Identical to: NP_001076585, NP_005032 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
C2	cd00030	2.3e-17	417	512
C2B_MCTP_PRT	cd08376	0.00048	417	523
MACPF	pfam01823	4.5e-49	147	367
C2	pfam00168	8.6e-19	417	498
MACPF	smart00457	5.6e-70	167	369
C2	smart00239	2.1e-10	416	520

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_050482	Polymorphism	p.ALA91VAL	N/A
Swiss-Prot	VAR_010773	Polymorphism	p.ARG123HIS	N/A
dbSNP	rs35418374	Polymorphism	p.ARG4HIS	N/A
Swiss-Prot	VAR_010745	Disease	p.ARG225TRP	Familial hemophagocytic lymphohistiocytosis 2 (FHL2)
Swiss-Prot	VAR_010746	Disease	p.ASN252SER	Familial hemophagocytic lymphohistiocytosis 2 (FHL2)
Swiss-Prot	VAR_010747	Disease	p.CYS279TYR	Familial hemophagocytic lymphohistiocytosis 2 (FHL2)
Swiss-Prot	VAR_010749	Disease	p.GLY429GLU	Familial hemophagocytic lymphohistiocytosis 2 (FHL2)
Swiss-Prot	VAR_010774	Disease	p.ILE224ASN	Familial hemophagocytic lymphohistiocytosis 2 (FHL2)
Swiss-Prot	VAR_010748	Disease	p.PRO345LEU	Familial hemophagocytic lymphohistiocytosis 2 (FHL2)
Swiss-Prot	VAR_010744	Disease	p.VAL183GLY	Familial hemophagocytic lymphohistiocytosis 2 (FHL2)
Swiss-Prot	VAR_029773	Polymorphism	p.VAL135MET	N/A
Swiss-Prot	VAR_010772	Disease	p.VAL50MET	Familial hemophagocytic lymphohistiocytosis 2 (FHL2)
OMIM	170280.0011	Disease	p.ALA91VAL	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, SUSCEPTIBILITY TO\|\|LYMPHOMA, NON-HODGKIN, SUSCEPTIBILITY TO, INCLUDED;;
OMIM	170280.0013	Disease	p.ARG4HIS	APLASTIC ANEMIA
OMIM	170280.0004	Disease	p.ARG225TRP	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
OMIM	170280.0009	Disease	p.ASN252SER	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2\|\|LYMPHOMA, NON-HODGKIN, INCLUDED
OMIM	170280.0007	Disease	p.CYS279TYR	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
OMIM	170280.0016	Disease	p.GLN416TER	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
OMIM	170280.0003	Disease	p.GLN64TER	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
OMIM	170280.0005	Disease	p.GLY429GLU	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
OMIM	170280.0006	Disease	p.PRO345LEU	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
OMIM	170280.0012	Disease	p.SER388ILE	APLASTIC ANEMIA
OMIM	170280.0010	Disease	p.THR435MET	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
OMIM	170280.0002	Disease	p.TRP374TER	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2\|\|LYMPHOMA, NON-HODGKIN, INCLUDED
OMIM	170280.0008	Disease	p.VAL183GLY	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2

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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