Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P32322
60416434

P5CR1_HUMAN RecName: Full=Pyrroline-5-carboxylate reductase 1, mitochondrial; Short=P5C reductase 1; Short=P5CR 1

Known Diseases associated with this Protein:
  CUTIS LAXA, AUTOSOMAL RECESSIVE, 2B (ARCL2B)
  CUTIS LAXA, AUTOSOMAL RECESSIVE, 3B (ARCL3B)
9
2
0
0
11
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

ProC - COG0345
NAD_Gly3P_dh_N - pfam01210
F420_oxidored - pfam03807


Swiss-Prot Protein: P32322
Identical to: NP_008838
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ProCCOG03459.5e-931271
NAD_Gly3P_dh_Npfam012105e-051144
F420_oxidoredpfam038071.4e-32298

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_059070Diseasep.ALA179THRCutis laxa, autosomal recessive, 2B (ARCL2B)
Swiss-ProtVAR_059075Diseasep.ALA257THRCutis laxa, autosomal recessive, 3B (ARCL3B)
Swiss-ProtVAR_059071Polymorphismp.ALA189VALN/A
Swiss-ProtVAR_059076Diseasep.ARG266GLNCutis laxa, autosomal recessive, 2B (ARCL2B)
Swiss-ProtVAR_059068Diseasep.ARG119GLYCutis laxa, autosomal recessive, 2B (ARCL2B)
Swiss-ProtVAR_059069Diseasep.ARG119HISCutis laxa, autosomal recessive, 2B (ARCL2B)
Swiss-ProtVAR_059074Diseasep.ARG251HISCutis laxa, autosomal recessive, 3B (ARCL3B)
Swiss-ProtVAR_059072Diseasep.GLY206ARGCutis laxa, autosomal recessive, 2B (ARCL2B)
Swiss-ProtVAR_067601Polymorphismp.GLY297ARGN/A
Swiss-ProtVAR_067600Diseasep.GLY248GLUCutis laxa, autosomal recessive, 3B (ARCL3B)
Swiss-ProtVAR_059073Diseasep.GLY206TRPCutis laxa, autosomal recessive, 2B (ARCL2B)



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258