Results for the protein: Q92562

Results for the Protein: Q92562

2497367

9896

FIG4

NCBI, UniProt

FIG4_HUMAN RecName: Full=Polyphosphoinositide phosphatase; AltName: Full=Phosphatidylinositol 3,5-bisphosphate 5-phosphatase; AltName: Full=SAC domain-containing protein 3

Known Diseases associated with this Protein:
  AMYOTROPHIC LATERAL SCLEROSIS 11
  AMYOTROPHIC LATERAL SCLEROSIS 11 (ALS11)
  CHARCOT-MARIE-TOOTH DISEASE 4J (CMT4J)
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
  YUNIS-VARON SYNDROME
  YUNIS-VARON SYNDROME (YVS)

9

7

5

2

9

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Default View:	Swiss-Prot Protein: Q92562 Identical to: NP_055660 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_054833	Polymorphism	p.ARG388GLY	N/A
Swiss-Prot	VAR_054831	Polymorphism	p.ASP48GLY	N/A
Swiss-Prot	VAR_054832	Disease	p.ASP53TYR	Amyotrophic lateral sclerosis 11 (ALS11)
Swiss-Prot	VAR_070051	Disease	p.GLY104ASP	Yunis-Varon syndrome (YVS)
Swiss-Prot	VAR_036974	Disease	p.ILE41THR	Charcot-Marie-Tooth disease 4J (CMT4J)
Swiss-Prot	VAR_054836	Polymorphism	p.ILE902THR	N/A
Swiss-Prot	VAR_054834	Polymorphism	p.ILE411VAL	N/A
Swiss-Prot	VAR_070052	Disease	p.LEU175PRO	Yunis-Varon syndrome (YVS)
dbSNP	rs2295837	Polymorphism	p.MET364LEU	N/A
Swiss-Prot	VAR_054835	Polymorphism	p.TYR647CYS	N/A
dbSNP	rs9885672	Polymorphism	p.VAL654ALA	N/A
OMIM	609390.0003 609390.0006	Disease	p.ARG183TER	AMYOTROPHIC LATERAL SCLEROSIS 11
OMIM	609390.0008	Disease	p.ASP53TYR	AMYOTROPHIC LATERAL SCLEROSIS 11
OMIM	609390.0010	Disease	p.GLY104ASP	YUNIS-VARON SYNDROME
OMIM	609390.0001	Disease	p.ILE41THR	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
OMIM	609390.0012	Disease	p.LEU175PRO	YUNIS-VARON SYNDROME

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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