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Results for the Protein: NP_115780
14602455

transmembrane protease serine 3 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL RECESSIVE 8
3
0
3
0
0
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Default View:

Tryp_SPc - smart00020
Trypsin - pfam00089
Tryp_SPc - cd00190


RefSeq Protein: NP_115780
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Trypsinpfam000891.9e-8290317
Tryp_SPcsmart000201.2e-10689317

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM605511.0005 Diseasep.ARG89LEUDEAFNESS, AUTOSOMAL RECESSIVE 8
OMIM605511.0004 Diseasep.PRO277LEUDEAFNESS, AUTOSOMAL RECESSIVE 8
OMIM605511.0003 Diseasep.TRP124CYSDEAFNESS, AUTOSOMAL RECESSIVE 8



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