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Results for the Protein: Q9BYB0
148887434

SHAN3_HUMAN RecName: Full=SH3 and multiple ankyrin repeat domains protein 3; Short=Shank3; AltName: Full=Proline-rich synapse-associated protein 2; Short=ProSAP2

Known Diseases associated with this Protein:
  PHELAN-MCDERMID SYNDROME (PHEDE)
  SCHIZOPHRENIA 15 (SCZD15)
3
27
0
0
30
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

Arp - COG0666
Ank - pfam00023
ANK - cd00204
ANK - smart00248
SH3 - smart00326
SH3_2 - pfam07653
SH3 - cd00174
SH3_1 - pfam00018
PDZ - smart00228
PDZ_signaling - cd00992
PDZ - cd00136
SAM - smart00454
SAM_2 - pfam07647
SAM_1 - pfam00536
- cd00166


Swiss-Prot Protein: Q9BYB0
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ArpCOG06661.7e-16113369
ANKcd002048e-29210336
SH3cd001743.8e-15476528
PDZ_signalingcd009922.7e-20570663
PDZcd001368.6e-06581663
cd001663.8e-1916771739
Ankpfam000230.00027182214
Ankpfam000232.1e-06282314
SH3_1pfam000184.2e-05478523
SAM_1pfam005367.1e-2416761739
ANKsmart002486.6e-05282311
SH3smart003267.7e-16473529
SH3_2pfam076532.3e-12476528
PDZsmart002281.7e-23569666
SAM_2pfam076472e-1316751739
SAMsmart004544.9e-1916751741

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_032805Polymorphismp.ALA198GLYN/A
Swiss-ProtVAR_070262Polymorphismp.ALA963GLYN/A
Swiss-ProtVAR_070270Diseasep.ALA1452SERPhelan-McDermid syndrome (PHEDE)
Swiss-ProtVAR_070263Polymorphismp.ALA970SERN/A
Swiss-ProtVAR_070265Polymorphismp.ALA1173THRN/A
Swiss-ProtVAR_032806Polymorphismp.ALA224THRN/A
Swiss-ProtVAR_065801Polymorphismp.ALA720THRN/A
Swiss-ProtVAR_032804Polymorphismp.ARG12CYSN/A
Swiss-ProtVAR_032808Polymorphismp.ARG300CYSN/A
Swiss-ProtVAR_070266Polymorphismp.ARG1231HISN/A
Swiss-ProtVAR_065805Polymorphismp.ARG1298LYSN/A
Swiss-ProtVAR_065800Diseasep.ARG536TRPSchizophrenia 15 (SCZD15)
Swiss-ProtVAR_070260Polymorphismp.GLN321ARGN/A
Swiss-ProtVAR_070271Polymorphismp.GLY1557SERN/A
Swiss-ProtVAR_065803Polymorphismp.GLY1010VALN/A
Swiss-ProtVAR_070264Polymorphismp.GLY1011VALN/A
Swiss-ProtVAR_065799Polymorphismp.HIS493GLNN/A
Swiss-ProtVAR_032807Polymorphismp.ILE245THRN/A
Swiss-ProtVAR_065807Polymorphismp.ILE1546VALN/A
Swiss-ProtVAR_070268Polymorphismp.LEU1406VALN/A
Swiss-ProtVAR_070269Polymorphismp.MET1443THRN/A
Swiss-ProtVAR_070259Diseasep.PRO141ALAPhelan-McDermid syndrome (PHEDE)
Swiss-ProtVAR_065804Polymorphismp.PRO1134HISN/A
Swiss-ProtVAR_070267Polymorphismp.PRO1263LEUN/A
Swiss-ProtVAR_065808Polymorphismp.PRO1645THRN/A
Swiss-ProtVAR_070273Polymorphismp.PRO1654THRN/A
Swiss-ProtVAR_070272Polymorphismp.SER1566GLYN/A
Swiss-ProtVAR_070261Polymorphismp.SER341LEUN/A
Swiss-ProtVAR_065802Polymorphismp.SER952THRN/A
Swiss-ProtVAR_065806Polymorphismp.VAL1333GLYN/A



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