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Results for the Protein: Q96PV0
150421676

SYGP1_HUMAN RecName: Full=Ras/Rap GTPase-activating protein SynGAP; AltName: Full=Neuronal RasGAP; AltName: Full=Synaptic Ras GTPase-activating protein 1; Short=Synaptic Ras-GAP 1

Known Diseases associated with this Protein:
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 5
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (MRD5)
8
7
6
0
9
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Default View:

PH - smart00233
- cd01245
C2_SynGAP_like - cd04013
C2A_RasGAP - cd08383
C2 - smart00239
C2_Ras_p21A1 - cd08400
C2 - cd00030
RasGAP_CLA2_BUD2 - cd05137
RasGAP - smart00323
RasGAP_RASA3 - cd05134
RasGAP_GAP1_like - cd05128
RasGAP_RASAL - cd05135
RasGAP_RASA4 - cd05395
RasGAP_Neurofibromin - cd05130
RasGAP_Neurofibromin - cd05392
RasGAP - cd04519
RasGAP_DAB2IP - cd05136
RasGAP_p120GAP - cd05391
RasGAP_RASA2 - cd05394
RasGAP_IQGAP_like - cd05127
RasGAP - pfam00616
RasGAP_GAPA - cd05132
DUF3498 - pfam12004


Swiss-Prot Protein: Q96PV0
Identical to: NP_006763
   Default View:

















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
C2_SynGAP_likecd040133.4e-102252414
C2A_RasGAPcd083830.00012263406
C2cd000301.4e-09264365
C2_Ras_p21A1cd084006.4e-05264411
RasGAP_CLA2_BUD2cd051377.9e-18342714
RasGAP_RASA3cd051341.1e-08397713
RasGAP_GAP1_likecd051281.4e-19404701
RasGAP_RASALcd051352.2e-09404699
RasGAP_RASA4cd053956.5e-06404762
RasGAP_Neurofibromincd051301.4e-07414724
RasGAPcd045196.8e-88415723
RasGAP_DAB2IPcd051362e-229415723
RasGAP_p120GAPcd053914.8e-12415720
RasGAP_RASA2cd053944.4e-10415713
RasGAP_Neurofibromincd053929.5e-21415728
RasGAP_IQGAP_likecd051271.5e-06460723
RasGAP_GAPAcd051326.2e-08475740
RasGAPpfam006164.8e-63464635
PHsmart002334.8e-5427251
C2smart002391.2e-07263362
RasGAPsmart003235.8e-116392729
DUF3498pfam120047181313

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065079Polymorphismp.ARG749GLNN/A
Swiss-ProtVAR_065078Polymorphismp.ASP201GLUN/A
Swiss-ProtVAR_065081Polymorphismp.GLY991ARGN/A
Swiss-ProtVAR_065082Polymorphismp.ILE1115THRN/A
Swiss-ProtVAR_065083Polymorphismp.PRO1283LEUN/A
Swiss-ProtVAR_069233Diseasep.PRO562LEUMental retardation, autosomal dominant 5 (MRD5)
Swiss-ProtVAR_065080Polymorphismp.THR790ASNN/A
Swiss-ProtVAR_065084Polymorphismp.THR1310METN/A
Swiss-ProtVAR_069232Diseasep.TRP362ARGMental retardation, autosomal dominant 5 (MRD5)
OMIM603384.0010 Diseasep.ARG143TERMENTAL RETARDATION, AUTOSOMAL DOMINANT 5
OMIM603384.0002 Diseasep.ARG579TERMENTAL RETARDATION, AUTOSOMAL DOMINANT 5
OMIM603384.0001 Diseasep.LYS138TERMENTAL RETARDATION, AUTOSOMAL DOMINANT 5
OMIM603384.0008 Diseasep.PRO562LEUMENTAL RETARDATION, AUTOSOMAL DOMINANT 5
OMIM603384.0007 Diseasep.TRP362ARGMENTAL RETARDATION, AUTOSOMAL DOMINANT 5
OMIM603384.0009 Diseasep.TRP267TERMENTAL RETARDATION, AUTOSOMAL DOMINANT 5



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