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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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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_058738 | Disease | p.ARG136CYS | Axenfeld-Rieger syndrome 1 (RIEG1) | | Swiss-Prot | VAR_035027 | Disease | p.ARG108HIS | Ring dermoid of cornea (RDC) | | Swiss-Prot | VAR_003765 | Disease | p.ARG115HIS | Iridogoniodysgenesis 2 (IRID2) | | Swiss-Prot | VAR_003766 | Disease | p.ARG137PRO | Axenfeld-Rieger syndrome 1 (RIEG1) | | Swiss-Prot | VAR_003762 | Disease | p.ARG130TRP | Iridogoniodysgenesis 2 (IRID2) | | Swiss-Prot | VAR_058740 | Disease | p.ASN154THR | Axenfeld-Rieger syndrome 1 (RIEG1) | | Swiss-Prot | VAR_003763 | Disease | p.LEU100GLN | Axenfeld-Rieger syndrome 1 (RIEG1) | | Swiss-Prot | VAR_058739 | Disease | p.LEU151VAL | Axenfeld-Rieger syndrome 1 (RIEG1) | | Swiss-Prot | VAR_058737 | Disease | p.LYS134GLU | Axenfeld-Rieger syndrome 1 (RIEG1) | | Swiss-Prot | VAR_058736 | Disease | p.PRO110ARG | Axenfeld-Rieger syndrome 1 (RIEG1) | | Swiss-Prot | VAR_058735 | Disease | p.PRO110LEU | Axenfeld-Rieger syndrome 1 (RIEG1) | | Swiss-Prot | VAR_003764 | Disease | p.THR114PRO | Axenfeld-Rieger syndrome 1 (RIEG1) | | Swiss-Prot | VAR_035029 | Disease | p.VAL129LEU | Axenfeld-Rieger syndrome 1 (RIEG1) | | OMIM | 601542.0012 | Disease | p.ARG1HIS | RING DERMOID OF CORNEA | | OMIM | 601542.0008 | Disease | p.ARG63HIS | IRIDOGONIODYSGENESIS, TYPE 2 | | OMIM | 601542.0005 | Disease | p.ARG84PRO | AXENFELD-RIEGER SYNDROME, TYPE 1 | | OMIM | 601542.0007 | Disease | p.ARG1TRP | IRIDOGONIODYSGENESIS, TYPE 2 | | OMIM | 601542.0001 | Disease | p.LEU1GLN | AXENFELD-RIEGER SYNDROME, TYPE 1 | | OMIM | 601542.0013 | Disease | p.LYS81GLU | AXENFELD-RIEGER SYNDROME, TYPE 1 | | OMIM | 601542.0003 | Disease | p.THR1PRO | AXENFELD-RIEGER SYNDROME, TYPE 1 | | OMIM | 601542.0006 | Disease | p.TRP126TER | AXENFELD-RIEGER SYNDROME, TYPE 1 | | OMIM | 601542.0010 | Disease | p.VAL1LEU | AXENFELD-RIEGER SYNDROME, TYPE 1 |
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 |
|
6174907
PITX2_HUMAN RecName: Full=Pituitary homeobox 2; AltName: Full=ALL1-responsive protein ARP1; AltName: Full=Homeobox protein PITX2; AltName: Full=Paired-like homeodomain transcription factor 2; AltName: Full=RIEG bicoid-related homeobox transcription factor; AltName: Full=Solurshin
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