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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 | rs2873624 | Polymorphism | p.PRO380ALA | N/A | | dbSNP | rs161400 | Polymorphism | p.THR260ILE | N/A | | dbSNP | rs35086888 | Polymorphism | p.VAL42ILE | N/A | | OMIM | 606272.0016 | Disease | p.ASN323LYS | CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE | | OMIM | 606272.0011 | Disease | p.GLY197ARG | CYSTINOSIS, OCULAR NONNEPHROPATHIC | | OMIM | 606272.0015 | Disease | p.GLY339ARG | CYSTINOSIS, NEPHROPATHIC | | OMIM | 606272.0006 | Disease | p.GLY169ASP | CYSTINOSIS, NEPHROPATHIC | | OMIM | 606272.0001 | Disease | p.GLY95TER | CYSTINOSIS, NEPHROPATHIC | | OMIM | 606272.0017 | Disease | p.GLY110VAL | CYSTINOSIS, ATYPICAL NEPHROPATHIC | | OMIM | 606272.0018 | Disease | p.SER139PHE | CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE||CYSTINOSIS, ATYPICAL NEPHROPATHIC, INCLUDED | | OMIM | 606272.0003 | Disease | p.TRP138TER | CYSTINOSIS, NEPHROPATHIC | | OMIM | 606272.0007 | Disease | p.VAL42ILE | CYSTINOSIS, ATYPICAL NEPHROPATHIC |
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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119943118
cystinosin isoform 1 precursor [Homo sapiens]
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