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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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_037952 | Disease | p.ALA302PRO | Systemic lupus erythematosus (SLE) | | Swiss-Prot | VAR_037949 | Disease | p.ALA213VAL | Systemic lupus erythematosus (SLE) | | Swiss-Prot | VAR_028319 | Disease | p.ARG169HIS | Systemic lupus erythematosus (SLE) | | Swiss-Prot | VAR_037951 | Disease | p.ARG295SER | Systemic lupus erythematosus (SLE) | | Swiss-Prot | VAR_032940 | Disease | p.ASP255ASN | Aicardi-Goutieres syndrome 1 (AGS1) | | Swiss-Prot | VAR_037948 | Disease | p.ASP73ASN | Chilblain lupus 1 (CHBL1) | | Swiss-Prot | VAR_037953 | Polymorphism | p.GLU321GLY | N/A | | Swiss-Prot | VAR_037956 | Disease | p.GLY361ALA | Systemic lupus erythematosus (SLE) | | Swiss-Prot | VAR_037950 | Disease | p.GLY282SER | Systemic lupus erythematosus (SLE) | | Swiss-Prot | VAR_037954 | Disease | p.PRO345LEU | Systemic lupus erythematosus (SLE) | | Swiss-Prot | VAR_037955 | Disease | p.TYR360CYS | Systemic lupus erythematosus (SLE) | | Swiss-Prot | VAR_028321 | Disease | p.VAL256ASP | Aicardi-Goutieres syndrome 1 (AGS1) | | OMIM | 606609.0001 | Disease | p.ARG114HIS | AICARDI-GOUTIERES SYNDROME 1||SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, INCLUDED | | OMIM | 606609.0002 | Disease | p.ARG164TER | AICARDI-GOUTIERES SYNDROME 1 | | OMIM | 606609.0007 | Disease | p.ASP18ASN | CHILBLAIN LUPUS||AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT, INCLUDED | | OMIM | 606609.0006 | Disease | p.ASP200ASN | AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT | | OMIM | 606609.0004 | Disease | p.VAL201ASP | AICARDI-GOUTIERES SYNDROME 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 |
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47606216
TREX1_HUMAN RecName: Full=Three prime repair exonuclease 1; AltName: Full=3'-5' exonuclease TREX1; AltName: Full=DNase III
16
1
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