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Results for the Protein: Q8TAB3
73620979

PCD19_HUMAN RecName: Full=Protocadherin-19; Flags: Precursor

Known Diseases associated with this Protein:
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9 (EIEE9)
39
6
5
0
40
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Default View:

Cadherin_2 - pfam08266
CA_like - cd00031
Cadherin - pfam00028
CA - smart00112


Swiss-Prot Protein: Q8TAB3
Identical to: NP_001171809
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CA_likecd000314.8e-2224230
CA_likecd000315e-55242445
CA_likecd000315.1e-52457664
Cadherinpfam000286.6e-09134229
Cadherinpfam000283.9e-24243337
Cadherinpfam000288e-13354444
Cadherinpfam000287.7e-17458554
Cadherinpfam000288.7e-15573663
Cadherin_2pfam082664.8e-1823109
CAsmart001121.7e-16154236
CAsmart001125.1e-27263344
CAsmart001121.4e-20374451
CAsmart001121.8e-26478561
CAsmart001121e-13593670

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067480Diseasep.ALA262ASPEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_067474Diseasep.ALA153THREpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_067486Polymorphismp.ARG980CYSN/A
Swiss-ProtVAR_064491Polymorphismp.ARG958GLNN/A
Swiss-ProtVAR_064492Polymorphismp.ARG1107GLYN/A
Swiss-ProtVAR_067488Polymorphismp.ARG1107HISN/A
Swiss-ProtVAR_067489Polymorphismp.ASN1134HISN/A
Swiss-ProtVAR_046485Diseasep.ASN557LYSEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_067477Diseasep.ASN232SEREpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_067478Diseasep.ASN234SEREpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_064486Diseasep.ASN340SEREpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_064481Diseasep.ASP121ASNEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_064848Diseasep.ASP618ASNEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_064845Diseasep.ASP341GLUEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_067482Diseasep.ASP377GLUEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_064487Diseasep.ASP377HISEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_064844Diseasep.GLU249ASPEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_064482Diseasep.GLU199GLNEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_064489Diseasep.GLU414GLNEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_067484Diseasep.GLY513ARGEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_064483Diseasep.HIS203PROEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_067475Diseasep.LEU190ARGEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_064840Diseasep.LEU81ARGEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_067472Diseasep.LEU25PROEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_067483Diseasep.LEU433PROEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_064490Diseasep.LEU543PROEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_067487Polymorphismp.LEU1094VALN/A
Swiss-ProtVAR_064484Diseasep.PHE206CYSEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_064843Diseasep.PHE206TYREpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_067481Diseasep.PRO344ARGEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_064846Diseasep.PRO561ARGEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_064847Diseasep.PRO567LEUEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_067479Diseasep.PRO236SEREpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_064485Diseasep.SER276PROEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_064842Diseasep.THR146ARGEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_064488Diseasep.THR404ILEEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_046484Diseasep.VAL441GLUEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_067473Diseasep.VAL72GLYEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_067476Diseasep.VAL191LEUEpileptic encephalopathy, early infantile, 9 (EIEE9)
Swiss-ProtVAR_067485Diseasep.VAL642METEpileptic encephalopathy, early infantile, 9 (EIEE9)
OMIM300460.0008 Diseasep.ASN557LYSEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9
OMIM300460.0003 Diseasep.GLN85TEREPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9
OMIM300460.0006 Diseasep.GLU48TEREPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9
OMIM300460.0004 Diseasep.SER671TEREPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9
OMIM300460.0002 Diseasep.VAL441GLUEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9



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