Results for the protein: P0CW18

Results for the Protein: P0CW18

332319805

646960

PRSS56

NCBI, UniProt

PRS56_HUMAN RecName: Full=Serine protease 56; Flags: Precursor

Known Diseases associated with this Protein:
MICROPHTHALMIA, ISOLATED 6
MICROPHTHALMIA, ISOLATED, 6 (MCOP6)

10

1

3

1

7

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Default View: Tryp_SPc - smart00020	Swiss-Prot Protein: P0CW18 Identical to: NP_001182058 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1550094	Polymorphism	p.ALA30THR	N/A
Swiss-Prot	VAR_065076	Disease	p.ARG176GLY	Microphthalmia, isolated, 6 (MCOP6)
Swiss-Prot	VAR_069229	Disease	p.CYS395ARG	Microphthalmia, isolated, 6 (MCOP6)
Swiss-Prot	VAR_069226	Disease	p.GLY237ARG	Microphthalmia, isolated, 6 (MCOP6)
Swiss-Prot	VAR_069228	Disease	p.GLY320ARG	Microphthalmia, isolated, 6 (MCOP6)
Swiss-Prot	VAR_069230	Disease	p.PRO599ALA	Microphthalmia, isolated, 6 (MCOP6)
Swiss-Prot	VAR_065077	Disease	p.TRP309SER	Microphthalmia, isolated, 6 (MCOP6)
Swiss-Prot	VAR_069227	Disease	p.VAL302PHE	Microphthalmia, isolated, 6 (MCOP6)
OMIM	613858.0003	Disease	p.ARG176GLY	MICROPHTHALMIA, ISOLATED 6
OMIM	613858.0004	Disease	p.PRO599ALA	MICROPHTHALMIA, ISOLATED 6
OMIM	613858.0002	Disease	p.TRP309SER	MICROPHTHALMIA, ISOLATED 6

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