Results for the protein: Q5JRX3

Results for the Protein: Q5JRX3

485956568

10531

PITRM1

NCBI, UniProt

PREP_HUMAN RecName: Full=Presequence protease, mitochondrial; Short=hPreP; AltName: Full=Pitrilysin metalloproteinase 1; Short=Metalloprotease 1; Short=hMP1; Flags: Precursor

			0 15 0 12 3

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Default View: COG1026 - COG1026 PqqL - COG0612 Peptidase_M16_C - pfam05193 M16C_assoc - pfam08367	Swiss-Prot Protein: Q5JRX3 Identical to: NP_055704 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PqqL	COG0612	2e-05	49	516
Peptidase_M16_C	pfam05193	1.7e-32	244	432
M16C_assoc	pfam08367	9e-111	504	752
Peptidase_M16_C	pfam05193	8.6e-06	771	959

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_057059	Polymorphism	p.ALA554ASP	N/A
dbSNP	rs3182535	Polymorphism	p.ALA397VAL	N/A
Swiss-Prot	VAR_057060	Polymorphism	p.ARG805GLN	N/A
dbSNP	rs6901	Polymorphism	p.GLN1037ARG	N/A
dbSNP	rs11818724	Polymorphism	p.GLN8ARG	N/A
dbSNP	rs3765101	Polymorphism	p.GLN516HIS	N/A
Swiss-Prot	VAR_027524	Polymorphism	p.ILE952MET	N/A
dbSNP	rs4242746	Polymorphism	p.ILE328VAL	N/A
dbSNP	rs9423502	Polymorphism	p.LEU145VAL	N/A
dbSNP	rs41305673	Polymorphism	p.PHE618LEU	N/A
dbSNP	rs3814596	Polymorphism	p.PHE169SER	N/A
dbSNP	rs2279218	Polymorphism	p.PRO969LEU	N/A
dbSNP	rs35046873	Polymorphism	p.THR876MET	N/A
dbSNP	rs2388556	Polymorphism	p.VAL621ILE	N/A
dbSNP	rs17849904	Polymorphism	p.VAL963ILE	N/A

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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