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Results for the Protein: Q86SJ6
60389774

DSG4_HUMAN RecName: Full=Desmoglein-4; AltName: Full=Cadherin family member 13; Flags: Precursor

Known Diseases associated with this Protein:
  HYPOTRICHOSIS 6
3
5
3
4
1
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Default View:

CA_like - cd00031
Cadherin - pfam00028
CA - smart00112


Swiss-Prot Protein: Q86SJ6
Identical to: NP_817123
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CA_likecd000311.1e-4653261
CA_likecd000312.4e-28273489
Cadherinpfam000283.3e-1454148
Cadherinpfam000281.6e-24162260
Cadherinpfam000286.9e-23274377
Cadherinpfam000286e-05390488
CAsmart001123.3e-1673155
CAsmart001122.1e-19182267
CAsmart001122e-09293384
CAsmart001128.9e-11414495

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_048514Polymorphismp.ALA154THRN/A
dbSNPrs4799570 Polymorphismp.ILE644LEUN/A
dbSNPrs7229252 Polymorphismp.ILE535THRN/A
dbSNPrs60800275 Polymorphismp.MET1023ILEN/A
dbSNPrs61734847 Polymorphismp.THR765ALAN/A
OMIM607892.0008 Diseasep.ARG289TERHYPOTRICHOSIS 6
OMIM607892.0006 Diseasep.PRO267ARGHYPOTRICHOSIS 6
OMIM607892.0003 Diseasep.SER192PROHYPOTRICHOSIS 6



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