Results for the protein: NP

Results for the Protein: NP_057419

304766736

5625

PRODH

NCBI

proline dehydrogenase 1, mitochondrial isoform 1 [Homo sapiens]

Known Diseases associated with this Protein:
HYPERPROLINEMIA, TYPE I
SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4, INCLUDED

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Default View: Pro_dh - pfam01619	RefSeq Protein: NP_057419 Default View:

Domains found on the Protein

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

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs450046	Polymorphism	p.ARG521GLN	N/A
dbSNP	rs2904552	Polymorphism	p.ARG431HIS	N/A
dbSNP	rs2008720	Polymorphism	p.PRO19GLN	N/A
dbSNP	rs5747933	Polymorphism	p.THR275ASN	N/A
dbSNP	rs4819756	Polymorphism	p.TRP185ARG	N/A
dbSNP	rs2238731	Polymorphism	p.VAL427MET	N/A
OMIM	606810.0005	Disease	p.ALA455SER	HYPERPROLINEMIA, TYPE I\|\|SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4, INCLUDED
OMIM	606810.0002	Disease	p.ARG453CYS	HYPERPROLINEMIA, TYPE I\|\|SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4, INCLUDED
OMIM	606810.0007	Disease	p.ARG431HIS	HYPERPROLINEMIA, TYPE I\|\|SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4, INCLUDED
OMIM	606810.0006	Disease	p.GLN521ARG	HYPERPROLINEMIA, TYPE I\|\|SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4, INCLUDED
OMIM	606810.0008	Disease	p.GLN521GLU	HYPERPROLINEMIA, TYPE I
OMIM	606810.0003	Disease	p.LEU289MET	HYPERPROLINEMIA, TYPE I\|\|SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4, INCLUDED
OMIM	606810.0004	Disease	p.LEU441PRO	HYPERPROLINEMIA, TYPE I\|\|SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4, INCLUDED
OMIM	606810.0009	Disease	p.THR466MET	HYPERPROLINEMIA, TYPE I\|\|SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4, INCLUDED

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