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Known Diseases associated with this Protein: |  CUTIS LAXA, AUTOSOMAL RECESSIVE, 3A (ARCL3A)
| CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA
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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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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_038482 | Disease | p.ARG84GLN | Cutis laxa, autosomal recessive, 3A (ARCL3A) | | Swiss-Prot | VAR_058006 | Disease | p.HIS784TYR | Cutis laxa, autosomal recessive, 3A (ARCL3A) | | dbSNP | rs3765571 | Polymorphism | p.SER372TYR | N/A | | dbSNP | rs2275272 | Polymorphism | p.THR299ILE | N/A | | OMIM | 138250.0001 | Disease | p.ARG84GLN | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA | | OMIM | 138250.0002 | Disease | p.HIS784TYR | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA |
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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6226882
P5CS_HUMAN RecName: Full=Delta-1-pyrroline-5-carboxylate synthase; Short=P5CS; AltName: Full=Aldehyde dehydrogenase family 18 member A1; Includes: RecName: Full=Glutamate 5-kinase; Short=GK; AltName: Full=Gamma-glutamyl kinase; Includes: RecName: Full=Gamma-glutamyl phosphate reductase; Short=GPR; AltName: Full=Glutamate-5-semialdehyde dehydrogenase; AltName: Full=Glutamyl-gamma-semialdehyde dehydrogenase
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