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Known Diseases associated with this Protein: | ACTH-IND
| ACTH-INDEPEND
| GNAS HYPERFUNCTION (GNASHYP)
| MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC
| PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC
| PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC, INCLUDED
| PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC
| PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC, INCLUDED;;
| POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC, INCLUDED;;
| PSEUDOHYPOPARATHYROIDISM, TYPE IA
| PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS
| PSEUDOHYPOPARATHYROIDISM, TYPE IC
| PSEUDOPSEUDOHYPOPARATHYROIDISM
| SEX CORD STRO
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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_028777 | Disease | p.ALA436ASP | GNAS hyperfunction (GNASHYP) | Swiss-Prot | VAR_059656 | Polymorphism | p.ARG1023LEU | N/A | Swiss-Prot | VAR_028779 | Disease | p.PRO459ARG | GNAS hyperfunction (GNASHYP) | OMIM | 139320.0019 | Disease | p.ALA366SER | PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS | OMIM | 139320.0017 | Disease | p.ARG258ALA | PSEUDOPSEUDOHYPOPARATHYROIDISM | OMIM | 139320.0008 | Disease | p.ARG201CYS | MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC||PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC, INCLUDED;;||SEX CORD STRO | OMIM | 139320.0021 | Disease | p.ARG201GLY | MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC | OMIM | 139320.0009 | Disease | p.ARG201HIS | MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC||PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC, INCLUDED;;||ACTH-INDEPEND | OMIM | 139320.0020 | Disease | p.ARG231HIS | PSEUDOHYPOPARATHYROIDISM, TYPE IA | OMIM | 139320.0013 | Disease | p.ARG201SER | PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC||POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC, INCLUDED;;||ACTH-IND | OMIM | 139320.0016 | Disease | p.ARG258TRP | PSEUDOPSEUDOHYPOPARATHYROIDISM | OMIM | 139320.0007 | Disease | p.CYS165ARG | PSEUDOHYPOPARATHYROIDISM, TYPE IA | OMIM | 139320.0018 | Disease | p.GLN170ALA | PSEUDOPSEUDOHYPOPARATHYROIDISM | OMIM | 139320.0010 | Disease | p.GLN227ARG | PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC||PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC, INCLUDED | OMIM | 139320.0012 | Disease | p.GLN227HIS | PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC | OMIM | 139320.0040 | Disease | p.GLU392LYS | PSEUDOHYPOPARATHYROIDISM, TYPE IC | OMIM | 139320.0039 | Disease | p.GLU392TER | PSEUDOHYPOPARATHYROIDISM, TYPE IC | OMIM | 139320.0038 | Disease | p.LEU388ARG | PSEUDOHYPOPARATHYROIDISM, TYPE IC | OMIM | 139320.0006 | Disease | p.LEU99PRO | PSEUDOHYPOPARATHYROIDISM, TYPE IA | OMIM | 139320.0001 | Disease | p.MET1VAL | PSEUDOHYPOPARATHYROIDISM, TYPE IA | OMIM | 139320.0014 | Disease | p.SER250ARG | PSEUDOHYPOPARATHYROIDISM, TYPE IA | OMIM | 139320.0036 | Disease | p.TYR391TER | PSEUDOHYPOPARATHYROIDISM, TYPE IC |
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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