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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_002526 | Disease | p.ALA300PRO | Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) | Swiss-Prot | VAR_002529 | Disease | p.ARG347CYS | Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) | Swiss-Prot | VAR_002518 | Disease | p.ARG75GLY | Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) | Swiss-Prot | VAR_002524 | Disease | p.ARG273HIS | Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) | dbSNP | rs2230294 | Polymorphism | p.ARG308HIS | N/A | Swiss-Prot | VAR_002530 | Disease | p.ARG347HIS | Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) | Swiss-Prot | VAR_002533 | Disease | p.ARG472HIS | Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) | Swiss-Prot | VAR_002519 | Disease | p.ARG83TRP | Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) | Swiss-Prot | VAR_002538 | Disease | p.ASP539ASN | Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) | Swiss-Prot | VAR_002528 | Disease | p.GLN343ARG | Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) | Swiss-Prot | VAR_002535 | Disease | p.GLU495LYS | Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) | Swiss-Prot | VAR_002520 | Disease | p.GLY159SER | Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) | Swiss-Prot | VAR_002532 | Disease | p.HIS389ARG | Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) | Swiss-Prot | VAR_002517 | Disease | p.HIS20PRO | Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) | Swiss-Prot | VAR_018816 | Polymorphism | p.ILE208THR | N/A | Swiss-Prot | VAR_002537 | Disease | p.ILE525THR | Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) | Swiss-Prot | VAR_002534 | Disease | p.LEU487PHE | Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) | Swiss-Prot | VAR_002527 | Disease | p.LEU339PRO | Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) | Swiss-Prot | VAR_002536 | Disease | p.LEU517VAL | Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) | Swiss-Prot | VAR_002525 | Disease | p.SER278LEU | Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) | Swiss-Prot | VAR_002531 | Disease | p.THR375ARG | Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) | Swiss-Prot | VAR_002522 | Disease | p.THR195ILE | Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) | Swiss-Prot | VAR_002516 | Disease | p.THR5ILE | Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) | Swiss-Prot | VAR_002523 | Disease | p.THR224MET | Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) | Swiss-Prot | VAR_002521 | Disease | p.VAL101MET | Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) | OMIM | 172400.0002 | Disease | p.ARG335HIS | HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE||DEFICIENCY | OMIM | 172400.0004 172400.0011 | Disease | p.ASP528ASN | HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE||DEFICIENCY | OMIM | 172400.0008 | Disease | p.GLN332ARG | HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE||DEFICIENCY | OMIM | 172400.0001 | Disease | p.GLY119SER | HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE||DEFICIENCY | OMIM | 172400.0003 | Disease | p.ILE513THR | HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE||DEFICIENCY | OMIM | 172400.0007 | Disease | p.LEU328PRO | HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO||GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY | OMIM | 172400.0010 | Disease | p.THR364ARG | HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE||DEFICIENCY | OMIM | 172400.0005 | Disease | p.THR213MET | HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE||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.
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