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Known Diseases associated with this Protein: | ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY ERYTHROCYTE TYPE (AMPDDE)
| ERYTHROCYTE AMP DEAMINASE DEFICIENCY
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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_042608 | Disease | p.ALA320VAL | Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) | Swiss-Prot | VAR_042610 | Disease | p.ARG331CYS | Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) | Swiss-Prot | VAR_042611 | Disease | p.ARG402CYS | Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) | Swiss-Prot | VAR_009881 | Disease | p.ARG573CYS | Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) | dbSNP | rs11042836 | Polymorphism | p.ARG185TRP | N/A | Swiss-Prot | VAR_042606 | Disease | p.ASN310LYS | Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) | Swiss-Prot | VAR_042615 | Disease | p.GLN712PRO | Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) | Swiss-Prot | VAR_042609 | Disease | p.MET324THR | Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) | Swiss-Prot | VAR_042614 | Disease | p.PRO585LEU | Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) | Swiss-Prot | VAR_042612 | Disease | p.TRP450ARG | Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) | dbSNP | rs36003153 | Polymorphism | p.TYR455HIS | N/A | Swiss-Prot | VAR_042607 | Disease | p.VAL311LEU | Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) | OMIM | 102772.0001 | Disease | p.ARG564CYS | ERYTHROCYTE AMP DEAMINASE DEFICIENCY |
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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