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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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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TGFB | smart00204 | 1.4e-43 | 291 | 392 |
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_058983 | Polymorphism | p.ALA180PHE | N/A | Swiss-Prot | VAR_058984 | Polymorphism | p.ALA180THR | N/A | Swiss-Prot | VAR_066933 | Disease | p.ARG329CYS | Premature ovarian failure 4 (POF4) | Swiss-Prot | VAR_058978 | Disease | p.ARG76CYS | Premature ovarian failure 4 (POF4) | Swiss-Prot | VAR_058975 | Disease | p.ARG61GLN | Premature ovarian failure 4 (POF4) | Swiss-Prot | VAR_058981 | Disease | p.ARG138HIS | Premature ovarian failure 4 (POF4) | Swiss-Prot | VAR_058986 | Disease | p.ARG206HIS | Premature ovarian failure 4 (POF4) | Swiss-Prot | VAR_058979 | Disease | p.ARG76HIS | Premature ovarian failure 4 (POF4) | Swiss-Prot | VAR_058976 | Disease | p.ARG61TRP | Premature ovarian failure 4 (POF4) | Swiss-Prot | VAR_058977 | Disease | p.ARG68TRP | Premature ovarian failure 4 (POF4) | Swiss-Prot | VAR_058985 | Disease | p.ASN196LYS | Premature ovarian failure 4 (POF4) | Swiss-Prot | VAR_058980 | Polymorphism | p.ASN103SER | N/A | Swiss-Prot | VAR_066932 | Polymorphism | p.HIS200TYR | N/A | Swiss-Prot | VAR_058988 | Disease | p.ILE243VAL | Premature ovarian failure 4 (POF4) | Swiss-Prot | VAR_058982 | Disease | p.LEU148PRO | Premature ovarian failure 4 (POF4) | Swiss-Prot | VAR_058974 | Polymorphism | p.SER5ARG | N/A | Swiss-Prot | VAR_058987 | Disease | p.TRP221ARG | Premature ovarian failure 4 (POF4) | Swiss-Prot | VAR_021195 | Disease | p.TYR235CYS | Ovarian dysgenesis 2 (ODG2) | OMIM | 300247.0003 300247.0006 | Disease | p.ALA180THR | PREMATURE OVARIAN FAILURE 4 | OMIM | 300247.0002 | Disease | p.ARG76CYS | PREMATURE OVARIAN FAILURE 4 | OMIM | 300247.0005 | Disease | p.ARG68TRP | PREMATURE OVARIAN FAILURE 4 | OMIM | 300247.0004 | Disease | p.GLU211TER | PREMATURE OVARIAN FAILURE 4 | OMIM | 300247.0001 | Disease | p.TYR235CYS | OVARIAN DYSGENESIS 2 |
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.
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