Home News About DMDM Database Statistics Research Publications Contact  

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
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:

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 ↕
cd012454.4e-65136249
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



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258