|
|
|---|
 |
|
Known Diseases associated with this Protein: |  GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,
| TYPE II
|
|  | 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. |
|---|
 Default View:
| |
|---|
 Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| dbSNP | rs13306575 | Polymorphism | p.ARG350TRP | N/A | | dbSNP | rs17849502 | Polymorphism | p.HIS344GLN | N/A | | dbSNP | rs2274064 | Polymorphism | p.LYS136ARG | N/A | | dbSNP | rs13306581 | Polymorphism | p.THR234MET | N/A | | dbSNP | rs35937854 | Polymorphism | p.VAL252ALA | N/A | | OMIM | 608515.0007 | Disease | p.ALA1VAL | 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.ARG350TRP | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,||TYPE II | | OMIM | 608515.0002 | Disease | p.ASP1VAL | 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.LYS1GLU | 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.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
|
299829294
neutrophil cytosol factor 2 isoform 2 [Homo sapiens]
6
5
6
5
0
