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Known Diseases associated with this Protein: |  FLECK RETINA, FAMILIAL BENIGN
| FLECK RETINA, FAMILIAL BENIGN (FRFB)
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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 | rs140232035 | Polymorphism | p.ARG123GLN | N/A | | Swiss-Prot | VAR_067343 | Disease | p.GLY45CYS | Fleck retina, familial benign (FRFB) | | Swiss-Prot | VAR_067344 | Disease | p.GLY49SER | Fleck retina, familial benign (FRFB) | | OMIM | 601192.0004 | Disease | p.ARG53TER | FLECK RETINA, FAMILIAL BENIGN | | OMIM | 601192.0001 | Disease | p.GLY45CYS | FLECK RETINA, FAMILIAL BENIGN | | OMIM | 601192.0003 | Disease | p.GLY49SER | FLECK RETINA, FAMILIAL BENIGN | | OMIM | 601192.0002 | Disease | p.TRP62TER | FLECK RETINA, FAMILIAL BENIGN |
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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730258
PA2G5_HUMAN RecName: Full=Calcium-dependent phospholipase A2; AltName: Full=Group V phospholipase A2; AltName: Full=PLA2-10; AltName: Full=Phosphatidylcholine 2-acylhydrolase 5; Flags: Precursor
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