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Results for the Protein: P43034
1170794

LIS1_HUMAN RecName: Full=Platelet-activating factor acetylhydrolase IB subunit alpha; AltName: Full=Lissencephaly-1 protein; Short=LIS-1; AltName: Full=PAF acetylhydrolase 45 kDa subunit; Short=PAF-AH 45 kDa subunit; AltName: Full=PAF-AH alpha; Short=PAFAH alpha

Known Diseases associated with this Protein:
  LISSENCEPHALY 1
  LISSENCEPHALY 1 (LIS1)
  SUBCORTICAL BAND HETEROTOPIA (SBH)
  SUBCORTICAL LAMINAR HETEROTOPIA
16
0
9
0
7
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Default View:

LisH - smart00667
LisH - pfam08513
WD40 - smart00320


Swiss-Prot Protein: P43034
Identical to: NP_000421
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LisHsmart006677.2e-09639
LisHpfam085132.2e-09935
WD40smart003207.2e-0797136
WD40smart003201.5e-11139178
WD40smart003206.9e-12181220
WD40smart003202e-08223262
WD40smart003203e-12265324
WD40smart003202.6e-11327366
WD40smart003201.2e-10369408

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_037300Diseasep.ARG241PROSubcortical band heterotopia (SBH)
Swiss-ProtVAR_015400Diseasep.ASP317HISLissencephaly 1 (LIS1)
Swiss-ProtVAR_015399Diseasep.GLY162SERLissencephaly 1 (LIS1)
Swiss-ProtVAR_007724Diseasep.HIS149ARGLissencephaly 1 (LIS1)
Swiss-ProtVAR_037301Diseasep.HIS277PROLissencephaly 1 (LIS1)
Swiss-ProtVAR_015398Diseasep.PHE31SERLissencephaly 1 (LIS1)
Swiss-ProtVAR_010203Diseasep.SER169PROSubcortical band heterotopia (SBH)
OMIM601545.0008 Diseasep.ARG241PROSUBCORTICAL LAMINAR HETEROTOPIA
OMIM601545.0002 Diseasep.ARG273TERLISSENCEPHALY 1
OMIM601545.0009 Diseasep.ARG8TERSUBCORTICAL LAMINAR HETEROTOPIA||LISSENCEPHALY 1
OMIM601545.0005 Diseasep.ASP317HISLISSENCEPHALY 1
OMIM601545.0007 Diseasep.GLY162SERLISSENCEPHALY 1
OMIM601545.0001 Diseasep.HIS149ARGLISSENCEPHALY 1
OMIM601545.0010 Diseasep.HIS277PROLISSENCEPHALY 1
OMIM601545.0006 Diseasep.PHE31SERLISSENCEPHALY 1
OMIM601545.0004 Diseasep.SER169PROSUBCORTICAL LAMINAR HETEROTOPIA



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