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Results for the Protein: P57727
13124582

TMPS3_HUMAN RecName: Full=Transmembrane protease serine 3; AltName: Full=Serine protease TADG-12; AltName: Full=Tumor-associated differentially-expressed gene 12 protein

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL RECESSIVE 8
4
13
4
4
9
Tips:
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Default View:

LDLa - smart00192
SR - smart00202
Tryp_SPc - smart00020


Swiss-Prot Protein: P57727
Identical to: NP_076927
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LDLasmart001929e-0972104
SRsmart002022e-05108205
Tryp_SPcsmart000201.2e-106216444

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_013496Polymorphismp.ALA426THRN/A
dbSNPrs45598239 Polymorphismp.ALA90THRN/A
Swiss-ProtVAR_025354Polymorphismp.ARG216LEUN/A
Swiss-ProtVAR_013491Polymorphismp.ARG109TRPN/A
Swiss-ProtVAR_013493Polymorphismp.ASP173ASNN/A
Swiss-ProtVAR_013490Polymorphismp.ASP103GLYN/A
Swiss-ProtVAR_013495Polymorphismp.CYS407ARGN/A
Swiss-ProtVAR_013494Polymorphismp.CYS194PHEN/A
dbSNPrs35227181 Polymorphismp.GLY111SERN/A
dbSNPrs2839500 Polymorphismp.ILE253VALN/A
Swiss-ProtVAR_011679Polymorphismp.PRO404LEUN/A
Swiss-ProtVAR_011678Polymorphismp.TRP251CYSN/A
dbSNPrs928302 Polymorphismp.VAL53ILEN/A
OMIM605511.0005 Diseasep.ARG216LEUDEAFNESS, AUTOSOMAL RECESSIVE 8
OMIM605511.0007 Diseasep.ASP103GLYDEAFNESS, AUTOSOMAL RECESSIVE 8
OMIM605511.0004 Diseasep.PRO404LEUDEAFNESS, AUTOSOMAL RECESSIVE 8
OMIM605511.0003 Diseasep.TRP251CYSDEAFNESS, AUTOSOMAL RECESSIVE 8



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