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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_058529 | Polymorphism | p.ALA239ASP | N/A | dbSNP | rs28362263 | Polymorphism | p.ALA443THR | N/A | Swiss-Prot | VAR_058535 | Polymorphism | p.ALA522THR | N/A | dbSNP | rs11583680 | Polymorphism | p.ALA53VAL | N/A | Swiss-Prot | VAR_058521 | Polymorphism | p.ARG93CYS | N/A | Swiss-Prot | VAR_058526 | Disease | p.ARG215HIS | Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) | Swiss-Prot | VAR_058530 | Disease | p.ARG357HIS | Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) | Swiss-Prot | VAR_017197 | Polymorphism | p.ARG46LEU | N/A | Swiss-Prot | VAR_058527 | Disease | p.ARG218SER | Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) | Swiss-Prot | VAR_025452 | Polymorphism | p.ARG237TRP | N/A | Swiss-Prot | VAR_025456 | Polymorphism | p.ARG469TRP | N/A | Swiss-Prot | VAR_058534 | Disease | p.ARG496TRP | Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) | Swiss-Prot | VAR_058525 | Polymorphism | p.ASN157LYS | N/A | Swiss-Prot | VAR_021337 | Polymorphism | p.ASN425SER | N/A | Swiss-Prot | VAR_058524 | Disease | p.ASP129GLY | Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) | Swiss-Prot | VAR_058531 | Disease | p.ASP374HIS | Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) | Swiss-Prot | VAR_058532 | Disease | p.ASP374TYR | Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) | Swiss-Prot | VAR_058528 | Polymorphism | p.GLN219GLU | N/A | Swiss-Prot | VAR_025459 | Polymorphism | p.GLN554GLU | N/A | Swiss-Prot | VAR_021341 | Polymorphism | p.GLN619PRO | N/A | Swiss-Prot | VAR_025457 | Polymorphism | p.GLU482GLY | N/A | Swiss-Prot | VAR_025451 | Polymorphism | p.GLU57LYS | N/A | Swiss-Prot | VAR_058522 | Polymorphism | p.GLY106ARG | N/A | Swiss-Prot | VAR_058533 | Polymorphism | p.GLY452ASP | N/A | dbSNP | rs505151 | Polymorphism | p.GLY670GLU | N/A | Swiss-Prot | VAR_067282 | Polymorphism | p.GLY394SER | N/A | Swiss-Prot | VAR_021340 | Polymorphism | p.HIS553ARG | N/A | Swiss-Prot | VAR_025454 | Polymorphism | p.HIS391ASN | N/A | Swiss-Prot | VAR_025455 | Polymorphism | p.HIS417GLN | N/A | Swiss-Prot | VAR_025453 | Polymorphism | p.LEU253PHE | N/A | Swiss-Prot | VAR_017200 | Disease | p.PHE216LEU | Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) | Swiss-Prot | VAR_025458 | Polymorphism | p.PHE515LEU | N/A | Swiss-Prot | VAR_058536 | Polymorphism | p.PRO616LEU | N/A | Swiss-Prot | VAR_067351 | Polymorphism | p.PRO174SER | N/A | Swiss-Prot | VAR_017199 | Disease | p.SER127ARG | Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) | Swiss-Prot | VAR_058537 | Polymorphism | p.SER668ARG | N/A | Swiss-Prot | VAR_058520 | Polymorphism | p.THR77ILE | N/A | Swiss-Prot | VAR_058523 | Polymorphism | p.VAL114ALA | N/A | dbSNP | rs562556 | Polymorphism | p.VAL474ILE | N/A | OMIM | 607786.0006 | Disease | p.ARG46LEU | LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS||1 | OMIM | 607786.0003 | Disease | p.ASP374TYR | HYPERCHOLESTEROLEMIA, FAMILIAL, 3 | OMIM | 607786.0005 | Disease | p.CYS679TER | LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS||1 | OMIM | 607786.0002 | Disease | p.PHE216LEU | HYPERCHOLESTEROLEMIA, FAMILIAL, 3 | OMIM | 607786.0001 | Disease | p.SER127ARG | HYPERCHOLESTEROLEMIA, FAMILIAL, 3 | OMIM | 607786.0004 607786.0007 | Disease | p.TYR142TER | LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS||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.
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