Results for the protein: P57727

Results for the Protein: P57727

13124582

64699

TMPRSS3

NCBI, UniProt

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 ↕
SR	smart00202	2e-05	108	205
Tryp_SPc	smart00020	1.2e-106	216	444

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_013496	Polymorphism	p.ALA426THR	N/A
dbSNP	rs45598239	Polymorphism	p.ALA90THR	N/A
Swiss-Prot	VAR_025354	Polymorphism	p.ARG216LEU	N/A
Swiss-Prot	VAR_013491	Polymorphism	p.ARG109TRP	N/A
Swiss-Prot	VAR_013493	Polymorphism	p.ASP173ASN	N/A
Swiss-Prot	VAR_013490	Polymorphism	p.ASP103GLY	N/A
Swiss-Prot	VAR_013495	Polymorphism	p.CYS407ARG	N/A
Swiss-Prot	VAR_013494	Polymorphism	p.CYS194PHE	N/A
dbSNP	rs35227181	Polymorphism	p.GLY111SER	N/A
dbSNP	rs2839500	Polymorphism	p.ILE253VAL	N/A
Swiss-Prot	VAR_011679	Polymorphism	p.PRO404LEU	N/A
Swiss-Prot	VAR_011678	Polymorphism	p.TRP251CYS	N/A
dbSNP	rs928302	Polymorphism	p.VAL53ILE	N/A
OMIM	605511.0005	Disease	p.ARG216LEU	DEAFNESS, AUTOSOMAL RECESSIVE 8
OMIM	605511.0007	Disease	p.ASP103GLY	DEAFNESS, AUTOSOMAL RECESSIVE 8
OMIM	605511.0004	Disease	p.PRO404LEU	DEAFNESS, AUTOSOMAL RECESSIVE 8
OMIM	605511.0003	Disease	p.TRP251CYS	DEAFNESS, AUTOSOMAL RECESSIVE 8

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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