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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_065012 | Disease | p.ALA140ASP | Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) | Swiss-Prot | VAR_017389 | Disease | p.ALA128VAL | Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) | Swiss-Prot | VAR_065016 | Disease | p.ALA202VAL | Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) | Swiss-Prot | VAR_017388 | Disease | p.ARG77GLN | Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) | Swiss-Prot | VAR_018478 | Polymorphism | p.ARG328LYS | N/A | Swiss-Prot | VAR_065009 | Disease | p.ARG102PRO | Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) | Swiss-Prot | VAR_065014 | Disease | p.ARG184PRO | Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) | dbSNP | rs13306575 | Polymorphism | p.ARG395TRP | N/A | Swiss-Prot | VAR_052621 | Disease | p.ASN419ILE | Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) | Swiss-Prot | VAR_065002 | Disease | p.ASN42SER | Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) | Swiss-Prot | VAR_065007 | Disease | p.ASP93GLU | Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) | Swiss-Prot | VAR_065010 | Disease | p.ASP108VAL | Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) | Swiss-Prot | VAR_065013 | Disease | p.GLN169GLU | Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) | Swiss-Prot | VAR_065017 | Polymorphism | p.GLY369ARG | N/A | Swiss-Prot | VAR_065004 | Disease | p.GLY44ARG | Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) | Swiss-Prot | VAR_065003 | Disease | p.GLY44CYS | Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) | Swiss-Prot | VAR_008904 | Disease | p.GLY78GLU | Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) | dbSNP | rs17849502 | Polymorphism | p.HIS389GLN | N/A | dbSNP | rs2274064 | Polymorphism | p.LYS181ARG | N/A | Swiss-Prot | VAR_065006 | Polymorphism | p.MET79VAL | N/A | dbSNP | rs13306581 | Polymorphism | p.THR279MET | N/A | Swiss-Prot | VAR_065011 | Disease | p.TRP137ARG | Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) | dbSNP | rs35937854 | Polymorphism | p.VAL297ALA | N/A | OMIM | 608515.0007 | Disease | p.ALA128VAL | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,||TYPE II | OMIM | 608515.0008 | Disease | p.ARG77GLN | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,||TYPE II | OMIM | 608515.0010 | Disease | p.ARG395TRP | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,||TYPE II | OMIM | 608515.0002 | Disease | p.ASP161VAL | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,||TYPE II | OMIM | 608515.0009 | Disease | p.GLN100TER | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,||TYPE II | OMIM | 608515.0002 | Disease | p.LYS160GLU | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,||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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