|
|
|
|
| | 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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
---|
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_010225 | Disease | p.ARG160CYS | Septooptic dysplasia (SOD) | dbSNP | rs9878928 | Polymorphism | p.ASN125SER | N/A | Swiss-Prot | VAR_063230 | Disease | p.GLN6HIS | Pituitary hormone deficiency, combined, 5 (CPHD5) | Swiss-Prot | VAR_063232 | Disease | p.GLU149LYS | Growth hormone deficiency with pituitary anomalies (GHDPA) | Swiss-Prot | VAR_063231 | Disease | p.ILE26THR | Pituitary hormone deficiency, combined, 5 (CPHD5) | Swiss-Prot | VAR_063233 | Disease | p.SER170LEU | Septooptic dysplasia (SOD) | Swiss-Prot | VAR_063234 | Disease | p.THR181ALA | Growth hormone deficiency with pituitary anomalies (GHDPA) | OMIM | 601802.0001 | Disease | p.ARG160CYS | SEPTOOPTIC DYSPLASIA | OMIM | 601802.0010 | Disease | p.GLN6HIS | PITUITARY HORMONE DEFICIENCY, COMBINED, 5 | OMIM | 601802.0009 | Disease | p.GLU149LYS | GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES | OMIM | 601802.0005 | Disease | p.ILE26THR | PITUITARY HORMONE DEFICIENCY, COMBINED, 5 | OMIM | 601802.0002 | Disease | p.SER170LEU | SEPTOOPTIC DYSPLASIA, MILD | OMIM | 601802.0003 | Disease | p.THR181ALA | GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES |
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 |
|