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Results for the Protein: Q7Z494
68565783

NPHP3_HUMAN RecName: Full=Nephrocystin-3

Known Diseases associated with this Protein:
  MECKEL SYNDROME, TYPE 7
  NEPHRONOPHTHISIS 3
  NEPHRONOPHTHISIS 3 (NPHP3)
  RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
  RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (RHPD1)
14
1
6
1
8
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Default View:

TPR - smart00028
TPR_2 - pfam07719


Swiss-Prot Protein: Q7Z494
Identical to: NP_694972
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TPRsmart000283.4e-0511351168
TPR_2pfam077192e-0512191252
TPRsmart000282.9e-0612191252

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_022819Diseasep.ALA1221VALNephronophthisis 3 (NPHP3)
dbSNPrs35485382 Polymorphismp.ARG1305CYSN/A
Swiss-ProtVAR_044121Diseasep.ARG973GLNRenal-hepatic-pancreatic dysplasia 1 (RHPD1)
Swiss-ProtVAR_022817Diseasep.ARG397HISNephronophthisis 3 (NPHP3)
Swiss-ProtVAR_022816Diseasep.ASN386SERNephronophthisis 3 (NPHP3)
Swiss-ProtVAR_022818Diseasep.LEU1141PRONephronophthisis 3 (NPHP3)
Swiss-ProtVAR_022820Diseasep.SER1252ARGNephronophthisis 3 (NPHP3)
Swiss-ProtVAR_022821Diseasep.SER1314THRNephronophthisis 3 (NPHP3)
Swiss-ProtVAR_022815Diseasep.SER360THRNephronophthisis 3 (NPHP3)
OMIM608002.0006 Diseasep.ARG973GLNRENAL-HEPATIC-PANCREATIC DYSPLASIA 1
OMIM608002.0005 Diseasep.ARG577TERMECKEL SYNDROME, TYPE 7
OMIM608002.0009 Diseasep.ARG702TERNEPHRONOPHTHISIS 3
OMIM608002.0007 Diseasep.GLN1114TERRENAL-HEPATIC-PANCREATIC DYSPLASIA 1
OMIM608002.0003 Diseasep.GLU461TERNEPHRONOPHTHISIS 3
OMIM608002.0002 Diseasep.SER360THRNEPHRONOPHTHISIS 3



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