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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_002453 | Polymorphism | p.ALA44GLY | N/A | Swiss-Prot | VAR_002491 | Polymorphism | p.ALA335THR | N/A | Swiss-Prot | VAR_002474 | Polymorphism | p.ARG198CYS | N/A | Swiss-Prot | VAR_002498 | Disease | p.ARG387CYS | Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) | Swiss-Prot | VAR_002510 | Polymorphism | p.ARG454CYS | N/A | Swiss-Prot | VAR_002460 | Polymorphism | p.ARG81CYS | N/A | Swiss-Prot | VAR_002479 | Polymorphism | p.ARG227GLN | N/A | Swiss-Prot | VAR_002482 | Polymorphism | p.ARG257GLY | N/A | Swiss-Prot | VAR_002469 | Polymorphism | p.ARG166HIS | N/A | Swiss-Prot | VAR_002487 | Polymorphism | p.ARG285HIS | N/A | Swiss-Prot | VAR_002497 | Polymorphism | p.ARG387HIS | N/A | Swiss-Prot | VAR_002499 | Polymorphism | p.ARG393HIS | N/A | Swiss-Prot | VAR_002511 | Polymorphism | p.ARG454HIS | N/A | Swiss-Prot | VAR_002514 | Polymorphism | p.ARG463HIS | N/A | Swiss-Prot | VAR_002459 | Polymorphism | p.ARG81HIS | N/A | Swiss-Prot | VAR_002480 | Polymorphism | p.ARG227LEU | N/A | Swiss-Prot | VAR_002512 | Polymorphism | p.ARG459LEU | N/A | Swiss-Prot | VAR_002475 | Disease | p.ARG198PRO | Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) | Swiss-Prot | VAR_002506 | Disease | p.ARG439PRO | Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) | Swiss-Prot | VAR_002513 | Polymorphism | p.ARG459PRO | N/A | Swiss-Prot | VAR_002472 | Polymorphism | p.ARG182TRP | N/A | dbSNP | rs1050829 | Polymorphism | p.ASN126ASP | N/A | Swiss-Prot | VAR_002468 | Polymorphism | p.ASN165ASP | N/A | Swiss-Prot | VAR_002494 | Polymorphism | p.ASN363LYS | N/A | Swiss-Prot | VAR_002455 | Polymorphism | p.ASP58ASN | N/A | Swiss-Prot | VAR_002470 | Polymorphism | p.ASP176GLY | N/A | Swiss-Prot | VAR_002486 | Polymorphism | p.ASP282HIS | N/A | Swiss-Prot | VAR_002471 | Polymorphism | p.ASP181VAL | N/A | Swiss-Prot | VAR_002495 | Polymorphism | p.CYS385ARG | N/A | Swiss-Prot | VAR_002509 | Polymorphism | p.GLN449HIS | N/A | Swiss-Prot | VAR_002465 | Polymorphism | p.GLU156LYS | N/A | Swiss-Prot | VAR_002483 | Polymorphism | p.GLU274LYS | N/A | Swiss-Prot | VAR_002489 | Polymorphism | p.GLU317LYS | N/A | Swiss-Prot | VAR_002502 | Polymorphism | p.GLU398LYS | N/A | Swiss-Prot | VAR_002505 | Polymorphism | p.GLU416LYS | N/A | Swiss-Prot | VAR_002508 | Polymorphism | p.GLY447ARG | N/A | Swiss-Prot | VAR_002467 | Polymorphism | p.GLY163ASP | N/A | Swiss-Prot | VAR_002504 | Disease | p.GLY410ASP | Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) | Swiss-Prot | VAR_002503 | Polymorphism | p.GLY410CYS | N/A | Swiss-Prot | VAR_002466 | Polymorphism | p.GLY163SER | N/A | Swiss-Prot | VAR_002464 | Polymorphism | p.GLY131VAL | N/A | Swiss-Prot | VAR_002515 | Polymorphism | p.GLY488VAL | N/A | Swiss-Prot | VAR_002451 | Polymorphism | p.HIS32ARG | N/A | Swiss-Prot | VAR_002454 | Polymorphism | p.ILE48THR | N/A | Swiss-Prot | VAR_002492 | Polymorphism | p.LEU342PHE | N/A | Swiss-Prot | VAR_002507 | Polymorphism | p.LEU440PHE | N/A | Swiss-Prot | VAR_002463 | Polymorphism | p.LEU128PRO | N/A | Swiss-Prot | VAR_002490 | Polymorphism | p.LEU323PRO | N/A | Swiss-Prot | VAR_002458 | Polymorphism | p.LEU75PRO | N/A | Swiss-Prot | VAR_002496 | Polymorphism | p.LYS386GLU | N/A | Swiss-Prot | VAR_002476 | Polymorphism | p.MET212VAL | N/A | Swiss-Prot | VAR_002478 | Polymorphism | p.PHE216LEU | N/A | Swiss-Prot | VAR_002501 | Polymorphism | p.PRO396LEU | N/A | Swiss-Prot | VAR_002493 | Polymorphism | p.PRO353SER | N/A | Swiss-Prot | VAR_002461 | Polymorphism | p.SER106CYS | N/A | Swiss-Prot | VAR_002473 | Polymorphism | p.SER188PHE | N/A | Swiss-Prot | VAR_002484 | Polymorphism | p.SER278PHE | N/A | Swiss-Prot | VAR_002485 | Polymorphism | p.THR279SER | N/A | Swiss-Prot | VAR_020535 | Polymorphism | p.TYR322HIS | N/A | Swiss-Prot | VAR_002457 | Polymorphism | p.TYR70HIS | N/A | Swiss-Prot | VAR_002450 | Polymorphism | p.VAL12LEU | N/A | Swiss-Prot | VAR_002477 | Polymorphism | p.VAL213LEU | N/A | Swiss-Prot | VAR_002500 | Disease | p.VAL394LEU | Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) | Swiss-Prot | VAR_002488 | Polymorphism | p.VAL291MET | N/A | dbSNP | rs1050828 | Polymorphism | p.VAL68MET | N/A | OMIM | 305900.0047 | Disease | p.ALA14GLY | G6PD ORISSA | OMIM | 305900.0003 | Disease | p.ALA305THR | G6PD CHATHAM | OMIM | 305900.0051 | Disease | p.ALA331VAL | G6PD SERRES||ANEMIA, NONSEPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY | OMIM | 305900.0031 | Disease | p.ARG168CYS | G6PD COIMBRA | OMIM | 305900.0037 | Disease | p.ARG357CYS | G6PD GUADALAJARA||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY | OMIM | 305900.0035 | Disease | p.ARG197GLN | G6PD MEXICO CITY | OMIM | 305900.0062 | Disease | p.ARG168HIS | G6PD NILGIRI | OMIM | 305900.0016 | Disease | p.ARG255HIS | G6PD MONTALBANO | OMIM | 305900.0013 | Disease | p.ARG357HIS | G6PD BEVERLY HILLS | OMIM | 305900.0008 305900.0025 | Disease | p.ARG363HIS | G6PD NASHVILLE||G6PD ANAHEIM;;||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY | OMIM | 305900.0020 | Disease | p.ARG424HIS | G6PD ANDALUS | OMIM | 305900.0029 | Disease | p.ARG433HIS | G6PD KAIPING||G6PD ANANT;;||G6PD DHON;;||G6PD PETRICH-LIKE;;||G6PD SAPPORO-LIKE | OMIM | 305900.0027 | Disease | p.ARG197LEU | G6PD A- | OMIM | 305900.0021 | Disease | p.ARG429LEU | G6PD CANTON||G6PD GIFU;;||G6PD AGRIGENTO;;||G6PD TAIWAN-HAKKA | OMIM | 305900.0034 | Disease | p.ARG168PRO | G6PD SANTIAGO||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY | OMIM | 305900.0040 | Disease | p.ARG409PRO | G6PD PAWNEE||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY | OMIM | 305900.0059 | Disease | p.ARG429PRO | G6PD COSENZA | OMIM | 305900.0033 | Disease | p.ASN135ASP | G6PD TAIWAN-HAKKA 2 | OMIM | 305900.0001 | Disease | p.ASN96ASP | G6PD A+ | OMIM | 305900.0030 | Disease | p.ASN333LYS | G6PD LOMA LINDA||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY | OMIM | 305900.0007 | Disease | p.ASP28ASN | G6PD METAPONTO | OMIM | 305900.0010 | Disease | p.ASP252HIS | G6PD SEATTLE-LIKE||G6PD MODENA | OMIM | 305900.0049 | Disease | p.ASP151VAL | G6PD MALAGA | OMIM | 305900.0014 | Disease | p.CYS355ARG | G6PD TOMAH | OMIM | 305900.0053 | Disease | p.CYS239TYR | G6PD AVEIRO||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY | OMIM | 305900.0004 | Disease | p.GLU126LYS | G6PD ILESHA | OMIM | 305900.0042 | Disease | p.GLU287LYS | G6PD KERALA-KALYAN||G6PD KERALA;;||G6PD KALYAN | OMIM | 305900.0022 | Disease | p.GLU368LYS | G6PD PUERTO LIMON||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY | OMIM | 305900.0009 | Disease | p.GLY417ARG | G6PD SANTIAGO DE CUBA||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY | OMIM | 305900.0039 | Disease | p.GLY380ASP | G6PD JAPAN||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY | OMIM | 305900.0015 | Disease | p.GLY380CYS | G6PD RIVERSIDE | OMIM | 305900.0005 | Disease | p.GLY133SER | G6PD MAHIDOL | OMIM | 305900.0045 | Disease | p.GLY101VAL | G6PD QUING YUAN | OMIM | 305900.0044 | Disease | p.HIS2ARG | G6PD GAOHE | OMIM | 305900.0061 | Disease | p.HIS40TYR | G6PD NAMORU | OMIM | 305900.0043 | Disease | p.ILE18THR | G6PD AURES | OMIM | 305900.0046 | Disease | p.LEU312PHE | G6PD MAHIDOL-LIKE | OMIM | 305900.0028 | Disease | p.LEU293PRO | G6PD A- | OMIM | 305900.0012 | Disease | p.LYS356GLU | G6PD IOWA||G6PD IOWA CITY;;||G6PD SPRINGFIELD;;||G6PD WALTER REED | OMIM | 305900.0048 | Disease | p.PHE143LEU | G6PD NANKANG | OMIM | 305900.0011 | Disease | p.PHE186LEU | G6PD HARILAOU | OMIM | 305900.0050 | Disease | p.PRO437ARG | G6PD NEAPOLIS | OMIM | 305900.0060 | Disease | p.PRO451ARG | G6PD SPLIT | OMIM | 305900.0036 | Disease | p.PRO323SER | G6PD IERAPETRA | OMIM | 305900.0006 | Disease | p.SER158PHE | G6PD MEDITERRANEAN||G6PD SASSARI;;||G6PD CAGLIARI | OMIM | 305900.0055 | Disease | p.TYR292HIS | G6PD REHOVOT||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY | OMIM | 305900.0024 | Disease | p.VAL183LEU | G6PD GASTONIA||G6PD MARION;;||G6PD MINNESOTA;;||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY | OMIM | 305900.0038 | Disease | p.VAL364LEU | G6PD ALHAMBRA||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY | OMIM | 305900.0026 | Disease | p.VAL261MET | G6PD VIANGCHAN||G6PD JAMMU | OMIM | 305900.0054 | Disease | p.VAL38MET | G6PD ASAHI |
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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