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Known Diseases associated with this Protein: |  GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-NEGATIVE
| GRANULOMATOUS DISEASE, CHRONIC, CYTOCHROME-B-NEGATIVE, AUTOSOMAL RECESSIVE (ARCGD)
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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_060581 | Disease | p.ALA125THR | Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) | | Swiss-Prot | VAR_060580 | Disease | p.ALA124VAL | Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) | | Swiss-Prot | VAR_005123 | Disease | p.ARG90GLN | Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) | | Swiss-Prot | VAR_060579 | Disease | p.ARG90TRP | Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) | | Swiss-Prot | VAR_060583 | Polymorphism | p.GLU193ASP | N/A | | Swiss-Prot | VAR_060582 | Polymorphism | p.GLU171GLY | N/A | | Swiss-Prot | VAR_060578 | Disease | p.GLU53VAL | Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) | | Swiss-Prot | VAR_012755 | Disease | p.GLY24ARG | Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) | | Swiss-Prot | VAR_060576 | Disease | p.GLY25VAL | Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) | | Swiss-Prot | VAR_005124 | Disease | p.HIS94ARG | Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) | | Swiss-Prot | VAR_060577 | Disease | p.LEU52PRO | Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) | | Swiss-Prot | VAR_005126 | Disease | p.PRO156GLN | Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) | | Swiss-Prot | VAR_005125 | Disease | p.SER118ARG | Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) | | dbSNP | rs4673 | Polymorphism | p.TYR72HIS | N/A | | dbSNP | rs1049254 | Polymorphism | p.VAL174ALA | N/A | | OMIM | 608508.0012 | Disease | p.ALA125THR | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | | OMIM | 608508.0003 | Disease | p.ARG90GLN | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | | OMIM | 608508.0009 | Disease | p.GLN3TER | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | | OMIM | 608508.0010 | Disease | p.GLY24ARG | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | | OMIM | 608508.0006 | Disease | p.HIS94ARG | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | | OMIM | 608508.0005 | Disease | p.PRO156GLN | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | | OMIM | 608508.0004 | Disease | p.SER118ARG | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE |
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.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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311033459
CY24A_HUMAN RecName: Full=Cytochrome b-245 light chain; AltName: Full=Cytochrome b(558) alpha chain; AltName: Full=Cytochrome b558 subunit alpha; AltName: Full=Neutrophil cytochrome b 22 kDa polypeptide; AltName: Full=Superoxide-generating NADPH oxidase light chain subunit; AltName: Full=p22 phagocyte B-cytochrome; AltName: Full=p22-phox; Short=p22phox
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