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Results for the Protein: Q02413
292495005

DSG1_HUMAN RecName: Full=Desmoglein-1; AltName: Full=Cadherin family member 4; AltName: Full=Desmosomal glycoprotein 1; Short=DG1; Short=DGI; AltName: Full=Pemphigus foliaceus antigen; Flags: Precursor

Known Diseases associated with this Protein:
  PALMOPLANTAR KERATODERMA I, STRIATE
  PALMOPLANTAR KERATODERMA I, STRIATE OR DIFFUSE
3
12
3
9
3
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Default View:

CA_like - cd00031
Cadherin - pfam00028
CA - smart00112
Cadherin_C - pfam01049


Swiss-Prot Protein: Q02413
Identical to: NP_001933
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CA_likecd000311.6e-4853261
CA_likecd000312.5e-25273485
Cadherinpfam000288.6e-1854148
Cadherinpfam000282.1e-28162260
Cadherinpfam000287e-12274380
Cadherin_Cpfam010494.4e-05636765
CAsmart001126.5e-1773155
CAsmart001121.6e-19182267
CAsmart001121e-05293384

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs8091003 Polymorphismp.ASN493THRN/A
dbSNPrs34302455 Polymorphismp.ASP538ASNN/A
Swiss-ProtVAR_060249Polymorphismp.ASP828ASNN/A
dbSNPrs116081362 Polymorphismp.ILE613METN/A
dbSNPrs16961692 Polymorphismp.LEU821GLNN/A
dbSNPrs61730306 Polymorphismp.LYS537ARGN/A
Swiss-ProtVAR_055576Polymorphismp.MET665ILEN/A
dbSNPrs1426310 Polymorphismp.MET11VALN/A
dbSNPrs8091117 Polymorphismp.THR498ASNN/A
Swiss-ProtVAR_055573Polymorphismp.THR395SERN/A
dbSNPrs3752095 Polymorphismp.TYR841PHEN/A
dbSNPrs16961689 Polymorphismp.TYR528SERN/A
OMIM125670.0007 Diseasep.ARG144TERPALMOPLANTAR KERATODERMA I, STRIATE
OMIM125670.0004 Diseasep.ARG26TERPALMOPLANTAR KERATODERMA I, STRIATE OR DIFFUSE
OMIM125670.0006 Diseasep.GLN201TERPALMOPLANTAR KERATODERMA I, STRIATE



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