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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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_015836 | Polymorphism | p.ALA336PRO | N/A | Swiss-Prot | VAR_036480 | Polymorphism | p.ALA311VAL | N/A | Swiss-Prot | VAR_036481 | Polymorphism | p.ALA314VAL | N/A | Swiss-Prot | VAR_015840 | Polymorphism | p.ARG624CYS | N/A | Swiss-Prot | VAR_026519 | Polymorphism | p.ARG563GLN | N/A | Swiss-Prot | VAR_015839 | Polymorphism | p.ARG597HIS | N/A | Swiss-Prot | VAR_062403 | Disease | p.ASN288SER | Bronchiectasis with or without elevated sweat chloride 1 (BESC1) | Swiss-Prot | VAR_015841 | Polymorphism | p.GLU632GLY | N/A | Swiss-Prot | VAR_062407 | Disease | p.GLU539LYS | Bronchiectasis with or without elevated sweat chloride 1 (BESC1) | Swiss-Prot | VAR_062404 | Disease | p.GLY294SER | Bronchiectasis with or without elevated sweat chloride 1 (BESC1) | Swiss-Prot | VAR_007127 | Disease | p.GLY37SER | Pseudohypoaldosteronism 1, autosomal recessive (PHA1B) | Swiss-Prot | VAR_015838 | Polymorphism | p.GLY589SER | N/A | dbSNP | rs1799980 | Polymorphism | p.GLY442VAL | N/A | Swiss-Prot | VAR_036482 | Polymorphism | p.LEU387VAL | N/A | Swiss-Prot | VAR_026521 | Disease | p.PRO618ARG | Liddle syndrome (LIDDS) | Swiss-Prot | VAR_062402 | Disease | p.PRO267LEU | Bronchiectasis with or without elevated sweat chloride 1 (BESC1) | Swiss-Prot | VAR_007128 | Disease | p.PRO616LEU | Liddle syndrome (LIDDS) | Swiss-Prot | VAR_007129 | Disease | p.PRO616SER | Liddle syndrome (LIDDS) | Swiss-Prot | VAR_026520 | Disease | p.PRO617SER | Liddle syndrome (LIDDS) | Swiss-Prot | VAR_062406 | Disease | p.PRO369THR | Bronchiectasis with or without elevated sweat chloride 1 (BESC1) | Swiss-Prot | VAR_062401 | Disease | p.SER82CYS | Bronchiectasis with or without elevated sweat chloride 1 (BESC1) | Swiss-Prot | VAR_014892 | Polymorphism | p.THR594MET | N/A | Swiss-Prot | VAR_026522 | Disease | p.TYR620HIS | Liddle syndrome (LIDDS) | Swiss-Prot | VAR_062405 | Disease | p.VAL348MET | Bronchiectasis with or without elevated sweat chloride 1 (BESC1) | Swiss-Prot | VAR_015837 | Polymorphism | p.VAL434MET | N/A | OMIM | 600760.0001 | Disease | p.ARG564TER | LIDDLE SYNDROME | OMIM | 600760.0014 | Disease | p.ASN288SER | BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 | OMIM | 600760.0012 | Disease | p.GLU539LYS | BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 | OMIM | 600760.0011 | Disease | p.GLY294SER | BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 | OMIM | 600760.0003 | Disease | p.GLY37SER | PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE | OMIM | 600760.0008 | Disease | p.PRO616ARG | LIDDLE SYNDROME | OMIM | 600760.0009 | Disease | p.PRO267LEU | BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 | OMIM | 600760.0002 | Disease | p.PRO616LEU | LIDDLE SYNDROME | OMIM | 600760.0007 | Disease | p.PRO615SER | LIDDLE SYNDROME | OMIM | 600760.0013 | Disease | p.PRO369THR | BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 | OMIM | 600760.0015 | Disease | p.SER82CYS | BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 | OMIM | 600760.0004 | Disease | p.TYR618HIS | LIDDLE SYNDROME |
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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