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Results for the Protein: Q9UDY2
317373313

ZO2_HUMAN RecName: Full=Tight junction protein ZO-2; AltName: Full=Tight junction protein 2; AltName: Full=Zona occludens protein 2; AltName: Full=Zonula occludens protein 2

Known Diseases associated with this Protein:
  FAMILIAL HYPERCHOLANEMIA (FHCA)
1
11
0
9
3
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Default View:

PDZ - smart00228
PDZ_signaling - cd00992
PDZ - pfam00595
PDZ - cd00136
PDZ_CTP_protease - cd00988
SH3 - smart00326
SH3_2 - pfam07653
SH3 - cd00174
GuKc - smart00072
Guanylate_kin - pfam00625


Swiss-Prot Protein: Q9UDY2
Identical to: NP_004808
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PDZ_signalingcd009922.9e-2631117
PDZcd001361.6e-0742117
PDZ_CTP_proteasecd009880.0005943128
PDZ_signalingcd009923.5e-16305382
PDZcd001366.8e-10317382
PDZ_signalingcd009921.5e-17510589
PDZcd001364.1e-09519589
SH3cd001740.00048608666
PDZpfam005959.9e-2133117
PDZpfam005956e-16309382
PDZpfam005956e-15511589
Guanylate_kinpfam006251.1e-05730878
PDZsmart002285.9e-2230120
PDZsmart002282e-14293385
PDZsmart002285.3e-17509592
SH3smart003260.00019605667
SH3_2pfam076531.4e-07608666
GuKcsmart000722.8e-52690879

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs41277901 Polymorphismp.ARG493LYSN/A
Swiss-ProtVAR_046678Polymorphismp.ASN829ASPN/A
dbSNPrs2309428 Polymorphismp.ASP482GLUN/A
dbSNPrs41305539 Polymorphismp.GLN128LYSN/A
dbSNPrs28556975 Polymorphismp.LEU937PRON/A
Swiss-ProtVAR_046677Polymorphismp.LYS822ASNN/A
dbSNPrs34774441 Polymorphismp.MET668ILEN/A
dbSNPrs116545275 Polymorphismp.SER713GLYN/A
dbSNPrs41277907 Polymorphismp.SER1010PHEN/A
dbSNPrs35797487 Polymorphismp.SER711PRON/A
dbSNPrs77321498 Polymorphismp.THR364METN/A
Swiss-ProtVAR_016004Diseasep.VAL48ALAFamilial hypercholanemia (FHCA)



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