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Results for the Protein: Q92562
2497367

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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Swiss-Prot Protein: Q92562
Identical to: NP_055660
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_054833Polymorphismp.ARG388GLYN/A
Swiss-ProtVAR_054831Polymorphismp.ASP48GLYN/A
Swiss-ProtVAR_054832Diseasep.ASP53TYRAmyotrophic lateral sclerosis 11 (ALS11)
Swiss-ProtVAR_070051Diseasep.GLY104ASPYunis-Varon syndrome (YVS)
Swiss-ProtVAR_036974Diseasep.ILE41THRCharcot-Marie-Tooth disease 4J (CMT4J)
Swiss-ProtVAR_054836Polymorphismp.ILE902THRN/A
Swiss-ProtVAR_054834Polymorphismp.ILE411VALN/A
Swiss-ProtVAR_070052Diseasep.LEU175PROYunis-Varon syndrome (YVS)
dbSNPrs2295837 Polymorphismp.MET364LEUN/A
Swiss-ProtVAR_054835Polymorphismp.TYR647CYSN/A
dbSNPrs9885672 Polymorphismp.VAL654ALAN/A
OMIM609390.0003 609390.0006 Diseasep.ARG183TERAMYOTROPHIC LATERAL SCLEROSIS 11
OMIM609390.0008 Diseasep.ASP53TYRAMYOTROPHIC LATERAL SCLEROSIS 11
OMIM609390.0010 Diseasep.GLY104ASPYUNIS-VARON SYNDROME
OMIM609390.0001 Diseasep.ILE41THRCHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
OMIM609390.0012 Diseasep.LEU175PROYUNIS-VARON SYNDROME



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