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Known Diseases associated with this Protein: | NIGHT BLINDNESS, CONGENITAL STATIONARY, 1A (CSNB1A)
| NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A
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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_052020 | Polymorphism | p.ALA406GLY | N/A | Swiss-Prot | VAR_013872 | Disease | p.ALA187LYS | Night blindness, congenital stationary, 1A (CSNB1A) | Swiss-Prot | VAR_013868 | Disease | p.ALA143PRO | Night blindness, congenital stationary, 1A (CSNB1A) | Swiss-Prot | VAR_013876 | Disease | p.ASN264LYS | Night blindness, congenital stationary, 1A (CSNB1A) | Swiss-Prot | VAR_013874 | Disease | p.ASN216SER | Night blindness, congenital stationary, 1A (CSNB1A) | Swiss-Prot | VAR_013880 | Disease | p.ASN312SER | Night blindness, congenital stationary, 1A (CSNB1A) | Swiss-Prot | VAR_013867 | Disease | p.CYS31SER | Night blindness, congenital stationary, 1A (CSNB1A) | Swiss-Prot | VAR_013882 | Disease | p.GLY370VAL | Night blindness, congenital stationary, 1A (CSNB1A) | Swiss-Prot | VAR_013873 | Disease | p.LEU213GLN | Night blindness, congenital stationary, 1A (CSNB1A) | Swiss-Prot | VAR_013871 | Disease | p.LEU184PRO | Night blindness, congenital stationary, 1A (CSNB1A) | Swiss-Prot | VAR_013875 | Disease | p.LEU232PRO | Night blindness, congenital stationary, 1A (CSNB1A) | Swiss-Prot | VAR_013877 | Disease | p.LEU285PRO | Night blindness, congenital stationary, 1A (CSNB1A) | Swiss-Prot | VAR_013879 | Disease | p.LEU307PRO | Night blindness, congenital stationary, 1A (CSNB1A) | Swiss-Prot | VAR_013881 | Disease | p.LEU347PRO | Night blindness, congenital stationary, 1A (CSNB1A) | Swiss-Prot | VAR_013878 | Disease | p.PHE298SER | Night blindness, congenital stationary, 1A (CSNB1A) | Swiss-Prot | VAR_013870 | Disease | p.PRO175ARG | Night blindness, congenital stationary, 1A (CSNB1A) | Swiss-Prot | VAR_013869 | Disease | p.PRO151LEU | Night blindness, congenital stationary, 1A (CSNB1A) | OMIM | 300278.0004 | Disease | p.ALA187LYS | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A | OMIM | 300278.0005 | Disease | p.ARG94PRO | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A | OMIM | 300278.0003 | Disease | p.CYS35TER | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A | OMIM | 300278.0006 | Disease | p.ILE101THR | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A | OMIM | 300278.0002 | Disease | p.TRP350TER | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A |
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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