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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_006121 | Polymorphism | p.ALA257ASP | N/A | Swiss-Prot | VAR_006143 | Disease | p.ALA724PRO | Albinism, oculocutaneous, 2 (OCA2) | dbSNP | rs74653330 | Polymorphism | p.ALA481THR | N/A | Swiss-Prot | VAR_007940 | Disease | p.ALA481THR | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_036468 | Polymorphism | p.ALA773THR | N/A | Swiss-Prot | VAR_020626 | Disease | p.ALA334VAL | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_032095 | Polymorphism | p.ALA336VAL | N/A | Swiss-Prot | VAR_006124 | Disease | p.ALA368VAL | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_006146 | Disease | p.ALA787VAL | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_020636 | Disease | p.ARG720CYS | Albinism, oculocutaneous, 2 (OCA2) | dbSNP | rs1800407 | Polymorphism | p.ARG419GLN | N/A | Swiss-Prot | VAR_020625 | Disease | p.ARG290GLY | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_032097 | Polymorphism | p.ARG560HIS | N/A | Swiss-Prot | VAR_020622 | Disease | p.ARG10TRP | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_032094 | Polymorphism | p.ARG266TRP | N/A | dbSNP | rs1800401 | Polymorphism | p.ARG305TRP | N/A | Swiss-Prot | VAR_006129 | Disease | p.ARG419TRP | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_043700 | Disease | p.ASN476ASP | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_006135 | Disease | p.ASN489ASP | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_006119 | Disease | p.CYS112PHE | Albinism, oculocutaneous, 2 (OCA2) | dbSNP | rs61742223 | Polymorphism | p.GLN21HIS | N/A | Swiss-Prot | VAR_020638 | Disease | p.GLN799HIS | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_020633 | Polymorphism | p.GLU678LYS | N/A | Swiss-Prot | VAR_006117 | Disease | p.GLY27ARG | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_043701 | Disease | p.GLY775ARG | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_020637 | Disease | p.GLY795ARG | Albinism, oculocutaneous, 2 (OCA2) | dbSNP | rs1800414 | Polymorphism | p.HIS615ARG | N/A | Swiss-Prot | VAR_006136 | Disease | p.HIS549GLN | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_020632 | Disease | p.ILE617LEU | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_006134 | Disease | p.ILE473SER | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_020628 | Polymorphism | p.ILE370THR | N/A | Swiss-Prot | VAR_006142 | Polymorphism | p.ILE722THR | N/A | Swiss-Prot | VAR_006131 | Polymorphism | p.LEU440HIS | N/A | Swiss-Prot | VAR_007939 | Polymorphism | p.LEU440PHE | N/A | Swiss-Prot | VAR_020635 | Polymorphism | p.LEU688PHE | N/A | Swiss-Prot | VAR_006138 | Disease | p.LYS614ASN | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_020631 | Disease | p.LYS614GLU | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_020630 | Disease | p.MET394ILE | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_006126 | Disease | p.MET395LEU | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_006133 | Disease | p.MET446VAL | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_006125 | Disease | p.PHE385ILE | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_022019 | Polymorphism | p.PRO241ARG | N/A | Swiss-Prot | VAR_020623 | Disease | p.PRO198LEU | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_020624 | Disease | p.PRO211LEU | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_006145 | Disease | p.PRO743LEU | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_006118 | Disease | p.SER86ARG | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_006144 | Disease | p.SER736LEU | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_006137 | Disease | p.THR592ILE | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_020629 | Polymorphism | p.THR387MET | N/A | Swiss-Prot | VAR_006127 | Disease | p.THR404MET | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_006140 | Disease | p.TRP652ARG | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_006141 | Disease | p.TRP679ARG | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_020634 | Disease | p.TRP679CYS | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_043702 | Disease | p.TYR827HIS | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_032096 | Polymorphism | p.VAL519ALA | N/A | Swiss-Prot | VAR_006132 | Disease | p.VAL443ILE | Albinism, oculocutaneous, 2 (OCA2) | Swiss-Prot | VAR_020627 | Polymorphism | p.VAL350MET | N/A | OMIM | 611409.0003 | Disease | p.ALA481THR | ALBINISM, OCULOCUTANEOUS, TYPE II | OMIM | 611409.0007 | Disease | p.ALA334VAL | ALBINISM, OCULOCUTANEOUS, TYPE II | OMIM | 611409.0012 | Disease | p.ARG419GLN | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | OMIM | 611409.0011 | Disease | p.ARG305TRP | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES||SKIN/HAIR/EYE PIGMENTATION 1, BLUE/BROWN EYES, INCLUDED | OMIM | 611409.0010 | Disease | p.ASN489ASP | ALBINISM, OCULOCUTANEOUS, TYPE II | OMIM | 611409.0014 | Disease | p.MET394ILE | ALBINISM, OCULOCUTANEOUS, TYPE II | OMIM | 611409.0005 | Disease | p.PRO743LEU | ALBINISM, OCULOCUTANEOUS, TYPE II | OMIM | 611409.0009 | Disease | p.TRP679CYS | ALBINISM, OCULOCUTANEOUS, TYPE II | OMIM | 611409.0004 | Disease | p.VAL443ILE | ALBINISM, OCULOCUTANEOUS, TYPE II |
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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