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Known Diseases associated with this Protein: | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS
| BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME (BPES)
| BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
| BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II, I
| PREMATURE OVARIAN FAILURE 3
| PREMATURE OVARIAN FAILURE 3 (POF3)
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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_021201 | Polymorphism | p.ALA179GLY | N/A | Swiss-Prot | VAR_021197 | Disease | p.ALA66VAL | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) | Swiss-Prot | VAR_046497 | Disease | p.ARG103CYS | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) | Swiss-Prot | VAR_016886 | Disease | p.ASN109LYS | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) | Swiss-Prot | VAR_021200 | Disease | p.ASN105SER | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) | Swiss-Prot | VAR_062548 | Polymorphism | p.CYS134TRP | N/A | Swiss-Prot | VAR_021198 | Disease | p.GLU69LYS | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) | Swiss-Prot | VAR_015181 | Disease | p.GLY187ASP | Premature ovarian failure 3 (POF3) | Swiss-Prot | VAR_021199 | Disease | p.HIS104ARG | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) | Swiss-Prot | VAR_046492 | Disease | p.ILE84ASN | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) | Swiss-Prot | VAR_016883 | Disease | p.ILE84SER | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) | Swiss-Prot | VAR_046496 | Disease | p.ILE102THR | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) | Swiss-Prot | VAR_062545 | Disease | p.ILE63THR | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) | Swiss-Prot | VAR_046491 | Disease | p.ILE80THR | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) | Swiss-Prot | VAR_016885 | Disease | p.LEU106PHE | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) | Swiss-Prot | VAR_046498 | Disease | p.LEU106PRO | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) | Swiss-Prot | VAR_062547 | Disease | p.LEU108PRO | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) | Swiss-Prot | VAR_021202 | Disease | p.LYS193ARG | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) | Swiss-Prot | VAR_046490 | Disease | p.MET65VAL | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) | Swiss-Prot | VAR_046493 | Disease | p.PHE90SER | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) | Swiss-Prot | VAR_015182 | Polymorphism | p.PRO285SER | N/A | Swiss-Prot | VAR_046495 | Disease | p.SER101ARG | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) | Swiss-Prot | VAR_062549 | Disease | p.SER217CYS | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) | Swiss-Prot | VAR_021196 | Disease | p.SER58LEU | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) | Swiss-Prot | VAR_016887 | Disease | p.SER217PHE | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) | Swiss-Prot | VAR_062546 | Disease | p.TRP98ARG | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) | Swiss-Prot | VAR_046494 | Disease | p.TRP98GLY | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) | Swiss-Prot | VAR_021204 | Disease | p.TYR258ASN | Premature ovarian failure 3 (POF3) | Swiss-Prot | VAR_021203 | Disease | p.TYR215CYS | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) | OMIM | 605597.0013 | Disease | p.GLN196TER | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS | OMIM | 605597.0001 | Disease | p.GLN219TER | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | OMIM | 605597.0008 | Disease | p.GLN53TER | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | OMIM | 605597.0012 | Disease | p.GLN99TER | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | OMIM | 605597.0020 | Disease | p.GLU69LYS | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | OMIM | 605597.0019 | Disease | p.GLY187ASP | PREMATURE OVARIAN FAILURE 3 | OMIM | 605597.0011 | Disease | p.ILE84SER | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | OMIM | 605597.0017 | Disease | p.TYR258ASN | PREMATURE OVARIAN FAILURE 3 | OMIM | 605597.0009 | Disease | p.TYR274TER | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I||BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II, I |
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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