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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_028957 | Disease | p.ALA266PRO | Nystagmus congenital X-linked 1 (NYS1) | Swiss-Prot | VAR_028955 | Disease | p.ALA226THR | Nystagmus congenital X-linked 1 (NYS1) | Swiss-Prot | VAR_062654 | Disease | p.ARG229CYS | Nystagmus congenital X-linked 1 (NYS1) | Swiss-Prot | VAR_062657 | Disease | p.ARG261GLN | Nystagmus congenital X-linked 1 (NYS1) | Swiss-Prot | VAR_062655 | Disease | p.ARG229GLY | Nystagmus congenital X-linked 1 (NYS1) | Swiss-Prot | VAR_062656 | Disease | p.ARG261GLY | Nystagmus congenital X-linked 1 (NYS1) | Swiss-Prot | VAR_028962 | Polymorphism | p.ARG468HIS | N/A | Swiss-Prot | VAR_062652 | Disease | p.ARG146TRP | Nystagmus congenital X-linked 1 (NYS1) | Swiss-Prot | VAR_028954 | Disease | p.ASN221ASP | Nystagmus congenital X-linked 1 (NYS1) | Swiss-Prot | VAR_062658 | Disease | p.CYS271PHE | Nystagmus congenital X-linked 1 (NYS1) | Swiss-Prot | VAR_028958 | Disease | p.CYS271TYR | Nystagmus congenital X-linked 1 (NYS1) | Swiss-Prot | VAR_028952 | Disease | p.GLY24ARG | Nystagmus congenital X-linked 1 (NYS1) | Swiss-Prot | VAR_062660 | Disease | p.GLY296ARG | Nystagmus congenital X-linked 1 (NYS1) | Swiss-Prot | VAR_028951 | Disease | p.GLY24GLU | Nystagmus congenital X-linked 1 (NYS1) | Swiss-Prot | VAR_062651 | Disease | p.GLY24TRP | Nystagmus congenital X-linked 1 (NYS1) | Swiss-Prot | VAR_062659 | Disease | p.HIS275PRO | Nystagmus congenital X-linked 1 (NYS1) | Swiss-Prot | VAR_028953 | Disease | p.LEU142ARG | Nystagmus congenital X-linked 1 (NYS1) | Swiss-Prot | VAR_028956 | Disease | p.LEU231VAL | Nystagmus congenital X-linked 1 (NYS1) | dbSNP | rs5977625 | Polymorphism | p.SER281LEU | N/A | Swiss-Prot | VAR_028961 | Disease | p.SER340LEU | Nystagmus congenital X-linked 1 (NYS1) | Swiss-Prot | VAR_062653 | Disease | p.TRP225GLY | Nystagmus congenital X-linked 1 (NYS1) | Swiss-Prot | VAR_028960 | Disease | p.TYR301CYS | Nystagmus congenital X-linked 1 (NYS1) | OMIM | 300628.0008 | Disease | p.ARG229GLY | NYSTAGMUS 1, CONGENITAL, X-LINKED | OMIM | 300628.0002 | Disease | p.ARG335TER | NYSTAGMUS 1, CONGENITAL, X-LINKED||NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, INCLUDED | OMIM | 300628.0011 | Disease | p.CYS271TYR | NYSTAGMUS 1, CONGENITAL, X-LINKED||NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, INCLUDED | OMIM | 300628.0001 | Disease | p.GLN201TER | NYSTAGMUS 1, CONGENITAL, X-LINKED | OMIM | 300628.0005 | Disease | p.GLY24ARG | NYSTAGMUS 1, CONGENITAL, X-LINKED||NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, INCLUDED | OMIM | 300628.0007 | Disease | p.LEU142ARG | NYSTAGMUS 1, CONGENITAL, X-LINKED | OMIM | 300628.0010 | Disease | p.LEU231VAL | NYSTAGMUS 1, CONGENITAL, X-LINKED||NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, INCLUDED | OMIM | 300628.0004 | Disease | p.VAL84VAL | NYSTAGMUS 1, CONGENITAL, X-LINKED |
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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