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Known Diseases associated with this Protein: | FLECK RETINA, FAMILIAL BENIGN
| FLECK RETINA, FAMILIAL BENIGN (FRFB)
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| ![](./hpdd/images/helix_pix.gif) | Tips: ![](./hpdd/images/star.JPG) The Domains on the Default View are decided by the Domain's E-Value. ![](./hpdd/images/star.JPG) Clicking a check box will display or hide the correlated domain. ![](./hpdd/images/star.JPG) 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 ProteinSource ↕ | 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
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