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Results for the Protein: Q92796
218512007

DLG3_HUMAN RecName: Full=Disks large homolog 3; AltName: Full=Neuroendocrine-DLG; AltName: Full=Synapse-associated protein 102; Short=SAP-102; Short=SAP102; AltName: Full=XLMR

Known Diseases associated with this Protein:
  MENTAL RETARDATION, X-LINKED 90
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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:

MAGUK_N_PEST - pfam10608
PDZ - smart00228
PDZ_signaling - cd00992
PDZ - pfam00595
PDZ - cd00136
PDZ_assoc - pfam10600
PDZ_CTP_protease - cd00988
SH3 - smart00326
SH3_2 - pfam07653
SH3 - cd00174
SH3_1 - pfam00018
Gmk - COG0194
GuKc - smart00072
Guanylate_kin - pfam00625
GMPK - cd00071


Swiss-Prot Protein: Q92796
Identical to: NP_066943
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PDZ_signalingcd009928.9e-29129215
PDZcd001366.9e-11139215
PDZ_signalingcd009922.6e-28224310
PDZcd001367.8e-11234310
PDZ_signalingcd009924.1e-32384464
PDZ_CTP_proteasecd009885.5e-05393479
PDZcd001367.6e-15394464
SH3cd001748.3e-14505568
GmkCOG01944e-12619810
GMPKcd000711.2e-21629798
PDZpfam005952.3e-24131215
PDZpfam005957.3e-27226310
PDZpfam005954.2e-27386464
SH3_1pfam000183.9e-08507563
Guanylate_kinpfam006252.2e-87627804
MAGUK_N_PESTpfam106083.3e-2049130
PDZsmart002282.7e-25128218
PDZsmart002282.7e-30223313
PDZ_assocpfam106001e-47311385
PDZsmart002283.4e-30383467
SH3smart003261.5e-12502569
SH3_2pfam076531.4e-05505568
GuKcsmart000723.5e-77626805

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_036591Polymorphismp.GLY40ARGN/A
OMIM300189.0004 Diseasep.SER458TERMENTAL RETARDATION, X-LINKED 90



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