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Known Diseases associated with this Protein: | CAFFEY DISEASE
| EHLERS-DANLOS SYNDROME, TYPE I
| OI/EDS COMBINED SYNDROME
| OSTEOGENESIS IMPERFECTA
| OSTEOGENESIS IMPERFECTA, TYPE I
| OSTEOGENESIS IMPERFECTA, TYPE I, MILD
| OSTEOGENESIS IMPERFECTA, TYPE II
| OSTEOGENESIS IMPERFECTA, TYPE II, THIN-BONE TYPE
| OSTEOGENESIS IMPERFECTA, TYPE IIA
| OSTEOGENESIS IMPERFECTA, TYPE IIC
| OSTEOGENESIS IMPERFECTA, TYPE III
| OSTEOGENESIS IMPERFECTA, TYPE III/IV
| OSTEOGENESIS IMPERFECTA, TYPE IV
| OSTEOPENIC NONFRACTURE SYNDROME
| PRENATAL CORTICAL HYPEROSTOSIS, LETHAL, INCLUDED
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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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dbSNP | rs1800215 | Polymorphism | p.THR1075ALA | N/A | OMIM | 120150.0070 | Disease | p.ALA1387VAL | OSTEOGENESIS IMPERFECTA, TYPE II | OMIM | 120150.0059 | Disease | p.ARG134CYS | EHLERS-DANLOS SYNDROME, TYPE I | OMIM | 120150.0063 | Disease | p.ARG836CYS | CAFFEY DISEASE||PRENATAL CORTICAL HYPEROSTOSIS, LETHAL, INCLUDED | OMIM | 120150.0055 | Disease | p.ARG963TER | OSTEOGENESIS IMPERFECTA, TYPE I | OMIM | 120150.0052 | Disease | p.GLY13ALA | OSTEOGENESIS IMPERFECTA, TYPE I, MILD | OMIM | 120150.0030 | Disease | p.GLY154ARG | OSTEOGENESIS IMPERFECTA, TYPE III | OMIM | 120150.0004 | Disease | p.GLY391ARG | OSTEOGENESIS IMPERFECTA, TYPE II | OMIM | 120150.0008 | Disease | p.GLY667ARG | OSTEOGENESIS IMPERFECTA, TYPE II | OMIM | 120150.0014 | Disease | p.GLY847ARG | OSTEOGENESIS IMPERFECTA, TYPE II | OMIM | 120150.0034 | Disease | p.GLY85ARG | OSTEOGENESIS IMPERFECTA | OMIM | 120150.0064 | Disease | p.GLY13ASP | OI/EDS COMBINED SYNDROME | OMIM | 120150.0047 | Disease | p.GLY355ASP | OSTEOGENESIS IMPERFECTA, TYPE II | OMIM | 120150.0029 | Disease | p.GLY541ASP | OSTEOGENESIS IMPERFECTA, TYPE II | OMIM | 120150.0006 | Disease | p.GLY559ASP | OSTEOGENESIS IMPERFECTA, TYPE II | OMIM | 120150.0007 | Disease | p.GLY673ASP | OSTEOGENESIS IMPERFECTA, TYPE II | OMIM | 120150.0015 | Disease | p.GLY883ASP | OSTEOGENESIS IMPERFECTA, TYPE II | OMIM | 120150.0001 | Disease | p.GLY97ASP | OSTEOGENESIS IMPERFECTA, TYPE II | OMIM | 120150.0021 120150.0022 | Disease | p.GLY1017CYS | OSTEOGENESIS IMPERFECTA | OMIM | 120150.0003 | Disease | p.GLY175CYS | OSTEOGENESIS IMPERFECTA, TYPE IV | OMIM | 120150.0028 | Disease | p.GLY178CYS | OSTEOGENESIS IMPERFECTA, TYPE I | OMIM | 120150.0033 | Disease | p.GLY415CYS | OSTEOGENESIS IMPERFECTA, TYPE III/IV | OMIM | 120150.0038 | Disease | p.GLY43CYS | OSTEOPENIC NONFRACTURE SYNDROME | OMIM | 120150.0005 | Disease | p.GLY526CYS | OSTEOGENESIS IMPERFECTA, TYPE III | OMIM | 120150.0009 | Disease | p.GLY691CYS | OSTEOGENESIS IMPERFECTA, TYPE II | OMIM | 120150.0010 | Disease | p.GLY718CYS | OSTEOGENESIS IMPERFECTA, TYPE II | OMIM | 120150.0011 | Disease | p.GLY748CYS | OSTEOGENESIS IMPERFECTA, TYPE II | OMIM | 120150.0016 | Disease | p.GLY904CYS | OSTEOGENESIS IMPERFECTA, TYPE II | OMIM | 120150.0002 | Disease | p.GLY94CYS | OSTEOGENESIS IMPERFECTA, TYPE I | OMIM | 120150.0018 | Disease | p.GLY988CYS | OSTEOGENESIS IMPERFECTA, TYPE II | OMIM | 120150.0065 | Disease | p.GLY76GLU | OSTEOGENESIS IMPERFECTA, TYPE III | OMIM | 120150.0031 | Disease | p.GLY1003SER | OSTEOGENESIS IMPERFECTA, TYPE II | OMIM | 120150.0019 | Disease | p.GLY1009SER | OSTEOGENESIS IMPERFECTA, TYPE II | OMIM | 120150.0042 | Disease | p.GLY352SER | OSTEOGENESIS IMPERFECTA, TYPE III | OMIM | 120150.0044 | Disease | p.GLY415SER | OSTEOGENESIS IMPERFECTA, TYPE II | OMIM | 120150.0049 | Disease | p.GLY661SER | OSTEOGENESIS IMPERFECTA, TYPE III | OMIM | 120150.0012 | Disease | p.GLY832SER | OSTEOGENESIS IMPERFECTA, TYPE IV | OMIM | 120150.0013 | Disease | p.GLY844SER | OSTEOGENESIS IMPERFECTA, TYPE III | OMIM | 120150.0048 | Disease | p.GLY862SER | OSTEOGENESIS IMPERFECTA, TYPE III | OMIM | 120150.0040 | Disease | p.GLY901SER | OSTEOGENESIS IMPERFECTA, TYPE I | OMIM | 120150.0017 | Disease | p.GLY913SER | OSTEOGENESIS IMPERFECTA, TYPE II | OMIM | 120150.0035 | Disease | p.GLY1006VAL | OSTEOGENESIS IMPERFECTA, TYPE IIC | OMIM | 120150.0037 | Disease | p.GLY256VAL | OSTEOGENESIS IMPERFECTA, TYPE IIA | OMIM | 120150.0045 | Disease | p.GLY565VAL | OSTEOGENESIS IMPERFECTA, TYPE II | OMIM | 120150.0056 | Disease | p.GLY586VAL | OSTEOGENESIS IMPERFECTA, TYPE II | OMIM | 120150.0032 | Disease | p.GLY637VAL | OSTEOGENESIS IMPERFECTA, TYPE II | OMIM | 120150.0041 | Disease | p.GLY802VAL | OSTEOGENESIS IMPERFECTA, TYPE II | OMIM | 120150.0036 | Disease | p.GLY973VAL | OSTEOGENESIS IMPERFECTA, TYPE IIA | OMIM | 120150.0053 | Disease | p.TRP94CYS | OSTEOGENESIS IMPERFECTA, TYPE II, THIN-BONE TYPE |
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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