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Results for the Protein: Q9Y5Y6
13124575

ST14_HUMAN RecName: Full=Suppressor of tumorigenicity 14 protein; AltName: Full=Matriptase; AltName: Full=Membrane-type serine protease 1; Short=MT-SP1; AltName: Full=Prostamin; AltName: Full=Serine protease 14; AltName: Full=Serine protease TADG-15; AltName: Full=Tumor-associated differentially-expressed gene 15 protein

Known Diseases associated with this Protein:
  ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE
  ICHTHYOSIS, AUTOSOMAL RECESSIVE, WITH HYPOTRICHOSIS (ARIH)
3
3
2
3
1
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Default View:

SEA - pfam01390
CUB - cd00041
CUB - pfam00431
CUB - smart00042
Ldl_recept_a - pfam00057
LDLa - smart00192
LDLa - cd00112
Tryp_SPc - smart00020
Trypsin - pfam00089
Tryp_SPc - cd00190


Swiss-Prot Protein: Q9Y5Y6
Identical to: NP_068813
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CUBcd000411.1e-23214333
CUBcd000417.8e-32340446
LDLacd001128.9e-15453486
LDLacd001121.3e-13488523
LDLacd001122e-15525559
LDLacd001125e-10567602
Tryp_SPccd001904.2e-105615852
SEApfam013904.2e-2685193
CUBpfam004316.2e-06214331
CUBpfam004311.7e-25340444
Ldl_recept_apfam000572.6e-10451486
Ldl_recept_apfam000574.8e-06487523
Ldl_recept_apfam000574.1e-11524559
Ldl_recept_apfam000572.3e-08565602
Trypsinpfam000894.7e-76615849
CUBsmart000427.4e-11226331
CUBsmart000422.8e-26349444
LDLasmart001925.1e-12452483
LDLasmart001921.4e-12487520
LDLasmart001925e-14524556
LDLasmart001921.2e-08566599
Tryp_SPcsmart000203e-101614849

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs17667603 Polymorphismp.ARG381SERN/A
Swiss-ProtVAR_032849Diseasep.GLY827ARGIchthyosis, autosomal recessive, with hypotrichosis (ARIH)
dbSNPrs7126904 Polymorphismp.MET285ILEN/A
dbSNPrs62642514 Polymorphismp.THR350ALAN/A
OMIM606797.0001 Diseasep.GLY827ARGICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE
OMIM606797.0002 Diseasep.MET1ILEICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE



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