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Results for the Protein: Q14574
116241342

DSC3_HUMAN RecName: Full=Desmocollin-3; AltName: Full=Cadherin family member 3; AltName: Full=Desmocollin-4; AltName: Full=HT-CP; Flags: Precursor

Known Diseases associated with this Protein:
  HYPOTRICHOSIS AND RECURRENT SKIN VESICLES
1
6
1
4
2
Tips:
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Default View:

Cadherin_pro - pfam08758
Cadherin - pfam00028
CA - smart00112
CA_like - cd00031
Cadherin_C - pfam01049


Swiss-Prot Protein: Q14574
Identical to: NP_001932
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CA_likecd000313.3e-56247464
CA_likecd000319.5e-27475670
Cadherinpfam000282.7e-17140234
Cadherinpfam000281.6e-25248346
Cadherinpfam000285.1e-17360463
Cadherinpfam000282.4e-15476568
Cadherin_Cpfam010496.4e-23772896
Cadherin_propfam087581.9e-2831113
CAsmart001121.6e-12159241
CAsmart001124.2e-22268353
CAsmart001126.7e-10379470
CAsmart001122.9e-16496575

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2852003 Polymorphismp.ALA28ASPN/A
dbSNPrs276938 Polymorphismp.ARG102LYSN/A
Swiss-ProtVAR_048519Polymorphismp.ARG199TRPN/A
Swiss-ProtVAR_048520Polymorphismp.ASN239SERN/A
dbSNPrs35296997 Polymorphismp.LYS180GLNN/A
dbSNPrs276937 Polymorphismp.SER78THRN/A
OMIM600271.0001 Diseasep.LEU710TERHYPOTRICHOSIS AND RECURRENT SKIN VESICLES



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