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Known Diseases associated with this Protein: |  CUTIS LAXA, AUTOSOMAL RECESSIVE, 2B (ARCL2B)
| CUTIS LAXA, AUTOSOMAL RECESSIVE, 3B (ARCL3B)
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|  | 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. |
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 Default View:
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 Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_059070 | Disease | p.ALA179THR | Cutis laxa, autosomal recessive, 2B (ARCL2B) | | Swiss-Prot | VAR_059075 | Disease | p.ALA257THR | Cutis laxa, autosomal recessive, 3B (ARCL3B) | | Swiss-Prot | VAR_059071 | Polymorphism | p.ALA189VAL | N/A | | Swiss-Prot | VAR_059076 | Disease | p.ARG266GLN | Cutis laxa, autosomal recessive, 2B (ARCL2B) | | Swiss-Prot | VAR_059068 | Disease | p.ARG119GLY | Cutis laxa, autosomal recessive, 2B (ARCL2B) | | Swiss-Prot | VAR_059069 | Disease | p.ARG119HIS | Cutis laxa, autosomal recessive, 2B (ARCL2B) | | Swiss-Prot | VAR_059074 | Disease | p.ARG251HIS | Cutis laxa, autosomal recessive, 3B (ARCL3B) | | Swiss-Prot | VAR_059072 | Disease | p.GLY206ARG | Cutis laxa, autosomal recessive, 2B (ARCL2B) | | Swiss-Prot | VAR_067601 | Polymorphism | p.GLY297ARG | N/A | | Swiss-Prot | VAR_067600 | Disease | p.GLY248GLU | Cutis laxa, autosomal recessive, 3B (ARCL3B) | | Swiss-Prot | VAR_059073 | Disease | p.GLY206TRP | Cutis laxa, autosomal recessive, 2B (ARCL2B) |
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.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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60416434
P5CR1_HUMAN RecName: Full=Pyrroline-5-carboxylate reductase 1, mitochondrial; Short=P5C reductase 1; Short=P5CR 1
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