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Known Diseases associated with this Protein: |  NAIL DISORDER, NON-SYNDROMIC CONGENITAL, 3 (NDNC3)
| NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3
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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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| dbSNP | rs933135 | Polymorphism | p.ARG257HIS | N/A | | dbSNP | rs61755441 | Polymorphism | p.ASP231ASN | N/A | | Swiss-Prot | VAR_066400 | Disease | p.ILE574THR | Nail disorder, non-syndromic congenital, 3 (NDNC3) | | Swiss-Prot | VAR_066399 | Disease | p.THR209ARG | Nail disorder, non-syndromic congenital, 3 (NDNC3) | | OMIM | 602142.0003 | Disease | p.ALA553THR | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3 | | OMIM | 602142.0001 | Disease | p.ARG416TER | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3 | | OMIM | 602142.0004 | Disease | p.CYS188ARG | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3 |
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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206729887
PLCD1_HUMAN RecName: Full=1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1; AltName: Full=Phosphoinositide phospholipase C-delta-1; AltName: Full=Phospholipase C-III; Short=PLC-III; AltName: Full=Phospholipase C-delta-1; Short=PLC-delta-1
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