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Results for the Protein: NP_001182155
304766647

proline dehydrogenase 1, mitochondrial isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  HYPERPROLINEMIA, TYPE I
  SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4, INCLUDED
8
5
8
5
0
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Default View:

Pro_dh - pfam01619




Domains found on the Protein

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

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs450046 Polymorphismp.ARG413GLNN/A
dbSNPrs2904552 Polymorphismp.ARG323HISN/A
dbSNPrs5747933 Polymorphismp.THR167ASNN/A
dbSNPrs4819756 Polymorphismp.TRP77ARGN/A
dbSNPrs2238731 Polymorphismp.VAL319METN/A
OMIM606810.0005 Diseasep.ALA347SERHYPERPROLINEMIA, TYPE I||SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4, INCLUDED
OMIM606810.0002 Diseasep.ARG345CYSHYPERPROLINEMIA, TYPE I||SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4, INCLUDED
OMIM606810.0007 Diseasep.ARG323HISHYPERPROLINEMIA, TYPE I||SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4, INCLUDED
OMIM606810.0006 Diseasep.GLN413ARGHYPERPROLINEMIA, TYPE I||SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4, INCLUDED
OMIM606810.0008 Diseasep.GLN413GLUHYPERPROLINEMIA, TYPE I
OMIM606810.0003 Diseasep.LEU181METHYPERPROLINEMIA, TYPE I||SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4, INCLUDED
OMIM606810.0004 Diseasep.LEU333PROHYPERPROLINEMIA, TYPE I||SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4, INCLUDED
OMIM606810.0009 Diseasep.THR358METHYPERPROLINEMIA, TYPE I||SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4, INCLUDED



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